LOVD - Variant listings for SGCB

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Patient data (#0000002)
Phenotype -
Phenotype additional -
Reference JdD
Remarks -
Geographic origin -
Ethnic origin -
Gender ?
Inheritance unknown
Consanguinity -
Fam_Pat -
# reported 1
CK level -
Protein data -
Submitter Johan den Dunnen

Variant data
Allele Parent #1
Reported pathogenicity No known pathogenicity
Concluded pathogenicity Unknown
Exon 2i
Genet_ori germline (inherited)
DNA change c.244-1587CA(11_22)
Var_pub_as -
RNA change r.(=)
Protein change p.(=)
DB-ID SGCB_00047
Variant remarks -
Reference dbSNP-rs6148429
Template DNA
Technique SEQ
Frequency -
RE-site -

1 entry in DES

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
Var_pub_as Descending
Ascending
RNA change Descending
Ascending
Protein change Descending
Ascending
DB-ID Descending
Ascending
Variant remarks Descending
Ascending
Genet_ori Descending
Ascending
Reference Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
Frequency Descending
Ascending
RE-site Descending
Ascending
?/? Unknown 6 c.1166A>C - r.(?) p.(Gln389Pro) DES_00012 - germline (inherited) dbSNP-rs:28930075 DNA SEQ - -

3 entries in EMD

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
Var_pub_as Descending
Ascending
RNA change Descending
Ascending
Protein change Descending
Ascending
DB-ID Descending
Ascending
Variant remarks Descending
Ascending
Genet_ori Descending
Ascending
Segregation Descending
Ascending
Reference Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
Frequency Descending
Ascending
RE-site Descending
Ascending
-/? Maternal (confirmed) 5 c.445G>C - r.(?) p.(Asp149His) EMD_00040 - germline (inherited) - dbSNP-rs2070818 DNA ? - -
-/? Maternal (confirmed) 6 c.*59G>C - r.(?) p.(=) EMD_00056 - germline (inherited) - dbSNP-rs17426 DNA ? 0.15 -
-/? Maternal (confirmed) 6 c.*60C>T - r.(?) p.(=) EMD_00057 - germline (inherited) - dbSNP-rs17427 DNA ? 0.55 -

8 entries in FKRP

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
Var_pub_as Descending
Ascending
RNA change Descending
Ascending
Protein change Descending
Ascending
DB-ID Descending
Ascending
Variant remarks Descending
Ascending
Genet_ori Descending
Ascending
Reference Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
Frequency Descending
Ascending
RE-site Descending
Ascending
-/? Unknown 3 c.-190-84C>T - r.(?) p.(=) FKRP_00049 - germline (inherited) dbSNP-rs1644332 DNA SEQ - -
-/? Unknown 3 c.-44C>T - r.(?) p.(=) FKRP_00046 - germline (inherited) dbSNP-rs1693995 DNA SEQ 0.01 -
?/? Unknown 4 c.160C>T - r.(?) p.(Arg54Trp) FKRP_00084 - germline (inherited) dbSNP-rs28937905 DNA SEQ - -
?/? Unknown 4 c.663C>A - r.(?) p.(Ser221Arg) FKRP_00025 - germline (inherited) dbSNP-rs28937902 DNA SEQ - -
?/? Unknown 4 c.826C>A - r.(?) p.(Leu276Ile) FKRP_00001 - germline (inherited) dbSNP-rs28937900 DNA SEQ - -
?/? Unknown 4 c.946C>A - r.(?) p.(Pro316Thr) FKRP_00026 - germline (inherited) dbSNP-rs28937901 DNA SEQ - -
?/? Unknown 4 c.1213G>T - r.(?) p.(Val405Leu) FKRP_00053 - germline (inherited) dbSNP-rs28937904 DNA SEQ - -
?/? Unknown 4 c.1364C>A - r.(?) p.(Ala455Asp) FKRP_00054 - germline (inherited) dbSNP-rs28937903 DNA SEQ - -

1 entry in MYOT

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
Var_pub_as Descending
Ascending
RNA change Descending
Ascending
Protein change Descending
Ascending
DB-ID Descending
Ascending
Variant remarks Descending
Ascending
Genet_ori Descending
Ascending
Reference Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
Frequency Descending
Ascending
RE-site Descending
Ascending
?/? Parent #1 2 c.170C>T - r.(?) p.(Thr57Ile) MYOT_00001 - germline (inherited) dbSNP-rs28937597 DNA SEQ - -

9 entries in SGCA

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
Var_pub_as Descending
Ascending
RNA change Descending
Ascending
Protein change Descending
Ascending
DB-ID Descending
Ascending
Variant remarks Descending
Ascending
Genet_ori Descending
Ascending
Reference Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
Frequency Descending
Ascending
RE-site Descending
Ascending
-/? Parent #1 1i c.37+66C>T - r.(=) p.(=) SGCA_00061 - germline (inherited) dbSNP-rs9911548 DNA SEQ - -
-/? Parent #1 3i c.312+83C>T - r.(=) p.(=) SGCA_00060 - germline (inherited) dbSNP-rs2696297 DNA SEQ - -
-/? Parent #1 5 c.528C>T - r.(?) p.(=) SGCA_00044 - germline (inherited) dbSNP-rs1801190 DNA SEQ - -
-/? Parent #1 5i c.584+229G>A - r.(=) p.(=) SGCA_00059 - germline (inherited) dbSNP-rs16948744 DNA SEQ 0.46 TaqI-
-/? Parent #1 5i c.585-222C>T - r.(=) p.(=) SGCA_00058 - germline (inherited) dbSNP-rs2696296 DNA SEQ 0.5 -
-/? Parent #1 7 c.933C>T - r.(?) p.(=) SGCA_00045 - germline (inherited) dbSNP-rs1801191 DNA SEQ - NlaIII+
-/? Parent #1 9 c.*6C>T - r.(?) p.(=) SGCA_00047 - germline (inherited) dbSNP-rs2696288 DNA SEQ - -
-/? Parent #1 10 c.*69C>T - r.(?) p.(=) SGCA_00046 - germline (inherited) dbSNP-rs1801192 DNA SEQ - -
-/? Parent #1 10 c.*133G>T - r.(?) p.(=) SGCA_00048 - germline (inherited) dbSNP-rs1802614 DNA SEQ - -

15 entries in SGCB

Path.
Allele Descending
Ascending
Exon Descending
Ascending
Genet_ori Descending
Ascending
DNA change Descending
Ascending
Var_pub_as Descending
Ascending
RNA change Descending
Ascending
Protein change Descending
Ascending
DB-ID Descending
Ascending
Variant remarks Descending
Ascending
Reference Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
Frequency Descending
Ascending
RE-site Descending
Ascending
-/? Parent #1 1 germline (inherited) c.-189G>T - r.(?) p.(=) SGCB_00040 - dbSNP-rs10434429 DNA SEQ - -
-/? Parent #1 1i germline (inherited) c.33+2241C>A - r.(=) p.(=) SGCB_00024 - dbSNP-rs429664 DNA SEQ 0.47 -
-/? Parent #1 1i germline (inherited) c.34-47A>T - r.(=) p.(=) SGCB_00054 - dbSNP-rs429664 DNA SEQ - -
-/? Parent #1 2 germline (inherited) c.83A>G - r.(?) p.(Glu28Gly) SGCB_00036 - dbSNP-rs11541944 DNA SEQ - -
-/? Parent #1 2 germline (inherited) c.90G>T - r.(?) p.(Arg30Ser) SGCB_00035 - dbSNP-rs11541942 DNA SEQ - -
-/? Parent #1 2i germline (inherited) c.244-1587CA(11_22) - r.(=) p.(=) SGCB_00047 - dbSNP-rs6148429 DNA SEQ - -
-/? Parent #1 2i germline (inherited) c.244-761T>C - r.(=) p.(=) SGCB_00046 - dbSNP-rs225172 DNA SEQ 0.59 -
-/? Parent #1 2i germline (inherited) c.244-622T>C - r.(=) p.(=) SGCB_00045 - dbSNP-rs178724 DNA SEQ 0.59 -
-/? Parent #1 2i germline (inherited) c.244-21T>C - r.(=) p.(=) SGCB_00025 - dbSNP-rs225170 DNA SEQ - -
-/? Parent #1 3 germline (inherited) c.376A>G - r.(?) p.(Thr126Ala) SGCB_00034 - dbSNP-rs11541943 DNA SEQ - -
-/? Parent #1 3i germline (inherited) c.430-328C>T - r.(=) p.(=) SGCB_00042 - dbSNP-rs172817 DNA SEQ 0.34 -
-/? Parent #1 5i germline (inherited) c.753+427T>G - r.(=) p.(=) SGCB_00041 - dbSNP-rs225168 DNA SEQ 0.62 -
-/? Parent #1 5i germline (inherited) c.754-1849T>C - r.(=) p.(=) SGCB_00044 - dbSNP-rs225166 DNA SEQ 0.68 -
-/? Parent #1 6 germline (inherited) c.*521A>T - r.(?) p.(=) SGCB_00023 - dbSNP-rs225165 DNA SEQ 0.56 -
-/? Parent #1 6 germline (inherited) c.*1566T>C - r.(?) p.(=) SGCB_00037 GenBank analysis dbSNP-rs13989 DNA SEQ 0.47 -

13 entries in SGCD

Path.
Allele Descending
Ascending
Exon Descending
Ascending
Genet_ori Descending
Ascending
DNA change Descending
Ascending
Var_pub_as Descending
Ascending
RNA change Descending
Ascending
Protein change Descending
Ascending
DB-ID Descending
Ascending
Variant remarks Descending
Ascending
Reference Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
Frequency Descending
Ascending
RE-site Descending
Ascending
-/? Parent #1 1 germline (inherited) c.-94C>G - r.(?) p.(=) SGCD_00027 - dbSNP-rs13170573 DNA SEQ - -
-/? Parent #1 3 germline (inherited) c.84T>C - r.(?) p.(=) SGCD_00022 - dbSNP-rs1801193 DNA SEQ - -
-/? Parent #1 3i germline (inherited) c.192+39267T>C - r.(=) p.(=) SGCD_00012 - dbSNP-rs140616 DNA SEQ 0.62 -
-/? Parent #1 3i germline (inherited) c.192+76044A>G - r.(=) p.(=) SGCD_00013 - dbSNP-rs1546362 DNA SEQ 0.03 -
-/? Parent #1 3i germline (inherited) c.193-14304A>T - r.(=) p.(=) SGCD_00014 - dbSNP-rs256843 DNA SEQ 0.79 -
-/? Parent #1 3i germline (inherited) c.193-13512C>T - r.(=) p.(=) SGCD_00015 - dbSNP-rs1368300 DNA SEQ 0.22 -
-/? Parent #1 3i germline (inherited) c.193-13439G>T - r.(=) p.(=) SGCD_00016 - dbSNP-rs256842 DNA SEQ 0.08 -
-/? Parent #1 4i germline (inherited) c.295-498A>G - r.(=) p.(=) SGCD_00017 - dbSNP-rs2277956 DNA SEQ 0.063 -
-/? Parent #1 5 germline (inherited) c.309C>T - r.(?) p.(=) SGCD_00011 - dbSNP-rs1134822 DNA SEQ - -
-/? Parent #1 5i germline (inherited) c.382+2036A>G - r.(=) p.(=) SGCD_00018 - dbSNP-rs3797577 DNA SEQ 0.345 -
-/? Parent #1 5i germline (inherited) c.383-171A>G - r.(=) p.(=) SGCD_00019 - dbSNP-rs888841 DNA SEQ 0.138 -
-/? Parent #1 7i germline (inherited) c.575+54942C>T - r.(=) p.(=) SGCD_00020 - dbSNP-rs32083 DNA SEQ 0.90 -
-/? Parent #1 7i germline (inherited) c.576-48916_576-48913dup 576-48913_576-48912insTTGT r.(=) p.(=) SGCD_00021 - dbSNP-rs1160942 DNA SEQ 0.874 -

23 entries in SGCG

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
Var_pub_as Descending
Ascending
RNA change Descending
Ascending
Protein change Descending
Ascending
DB-ID Descending
Ascending
Variant remarks Descending
Ascending
Genet_ori Descending
Ascending
Reference Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
Frequency Descending
Ascending
RE-site Descending
Ascending
-/? Parent #1 1 c.-88G>A - r.-88g>a p.(=) SGCG_00050 - germline (inherited) dbSNP-rs4770403 DNA SEQ 0.14 -
-/? Parent #1 1i c.-1+1380G>A - r.(=) p.(=) SGCG_00015 - germline (inherited) dbSNP-rs3794371 DNA SEQ 0.48 -
-/? Parent #1 1i c.1-8906G>A - r.(=) p.(=) SGCG_00016 - germline (inherited) dbSNP-rs3794367 DNA SEQ 0.51 -
-/? Parent #1 1i c.1-6638T>C - r.(=) p.(=) SGCG_00017 - germline (inherited) dbSNP-rs3794364 DNA SEQ 0.43 -
-/? Parent #1 2 c.112T>C - r.(=) p.(=) SGCG_00030 - germline (inherited) dbSNP-rs1800349 DNA SEQ - -
-/? Parent #1 2i c.195+4549T>C - r.(=) p.(=) SGCG_00018 - germline (inherited) dbSNP-rs1336850 DNA SEQ 0.11 -
-/? Parent #1 2i c.195+8717C>T - r.(=) p.(=) SGCG_00019 - germline (inherited) dbSNP-rs572205 DNA SEQ 0.20 -
-/? Parent #1 2i c.195+12614G>T - r.(=) p.(=) SGCG_00020 - germline (inherited) dbSNP-rs681938 DNA SEQ 0.96 -
-/? Parent #1 2i c.195+12798C>T - r.(=) p.(=) SGCG_00021 - germline (inherited) dbSNP-rs685890 DNA SEQ 0.17 -
-/? Parent #1 3 c.228T>C - r.(?) p.(=) SGCG_00031 - germline (inherited) dbSNP-rs1800350 DNA SEQ 0.11 -
-/? Parent #1 4 c.312T>G - r.312u>g p.(=) SGCG_00032 - germline (inherited) dbSNP-rs1800351 DNA SEQ - -
-/? Parent #1 4 c.347G>A - r.(?) p.(Arg116His) SGCG_00033 - germline (inherited) dbSNP-rs17314986 DNA SEQ 0.04 -
-/? Parent #1 6i c.578+677A>G - r.(=) p.(=) SGCG_00022 - germline (inherited) dbSNP-rs558145 DNA SEQ 0.47 -
-/? Parent #1 6i c.578+4524A>G - r.(=) p.(=) SGCG_00023 - germline (inherited) dbSNP-rs475992 DNA SEQ 0.63 -
-/? Parent #1 6i c.578+8664G>T - r.(=) p.(=) SGCG_00024 - germline (inherited) dbSNP-rs521585 DNA SEQ 0.81 -
-/? Parent #1 6i c.579-8540C>T - r.(=) p.(=) SGCG_00025 - germline (inherited) dbSNP-rs518727 DNA SEQ 0.57 -
-/? Parent #1 8 c.705T>C - r.(=) p.(=) SGCG_00036 - germline (inherited) dbSNP-rs1800353 DNA SEQ - -
-/? Parent #1 8 c.860G>A - r.(?) p.(Ser287Asn) SGCG_00037 - germline (inherited) dbSNP-rs1800354 DNA SEQ 0.00-0.28 -
-/? Parent #1 8 c.*13C>T - r.(?) p.(=) SGCG_00038 - germline (inherited) dbSNP-rs9510701 DNA SEQ - -
-/? Parent #1 8 c.*136T>C - r.(=) p.(=) SGCG_00005 - germline (inherited) dbSNP-rs3751372 DNA SEQ 0.06 -
-/? Parent #1 8 c.*254G>A - r.(=) p.(=) SGCG_00013 - germline (inherited) dbSNP-rs3751371 DNA SEQ 0.48 -
-/? Parent #1 8 c.*295T>C - r.(=) p.(=) SGCG_00014 - germline (inherited) dbSNP-rs3829352 DNA SEQ 0.46 -
-/? Parent #1 8 c.*505A>G - r.(=) p.(=) SGCG_00058 - germline (inherited) dbSNP-rs7329620 DNA SEQ 0.02 -

3 entries in TPM2

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
Var_pub_as Descending
Ascending
RNA change Descending
Ascending
Protein change Descending
Ascending
DB-ID Descending
Ascending
Variant remarks Descending
Ascending
Genet_ori Descending
Ascending
Reference Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
Frequency Descending
Ascending
RE-site Descending
Ascending
-/? Unknown 7 c.699G>T - r.(?) p.(Lys233Asn) TPM2_00007 - germline (inherited) dbSNP-rs1804558 DNA SEQ - -
-/? Unknown 8i c.773-1034G>A - r.(?) p.(Glu258+15Lys) TPM2_00008 - germline (inherited) dbSNP-rs3180843 DNA SEQ 0.99 -
-/? Unknown 8i c.773-3dupC - r.(=) p.(=) TPM2_00004 - germline (inherited) dbSNP-rs3215700 DNA SEQ ? -

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