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LOVD - Variant listings for LAMA2

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1 c.-17delC - r.(?) p.(=) LAMA2_00314 - unknown from website Emory Genetics Lab DNA SEQ - -
1_65 c.=
  (Reported 16 times)		 - r.= p.= LAMA2_00000 no variants 2nd chromosome germline (inherited) - DNA SEQ - -
1_65 c.?
  (Reported 59 times)		 - r.? p.? LAMA2_00000 unknown variant 2nd chromosome germline (inherited) - DNA SEQ - -
1 c.2T>C
  (Reported 5 times)		 T51C r.2u>c p.0? LAMA2_00003 - germline (inherited) Pegoraro 1998, Hayashi 2001 DNA, RNA PTT, SSCA, SEQ - -
1 c.35T>G - r.(?) p.(Leu12Arg) LAMA2_00190 - germline (inherited) - DNA SEQ - -
1 c.47delG - r.(?) p.(Gly16Alafs*29) LAMA2_00230 - germline (inherited) - DNA SEQ - -
1 c.82C>T C131T r.82c>u p.Gln28* LAMA2_00004 - germline (inherited) Pegoraro 1998 DNA, RNA PTT, SEQ, SSCA - -
1 c.94C>T - r.(?) p.(Gln32*) LAMA2_00205 - germline (inherited) - DNA SEQ - -
1 c.112G>A
  (Reported 4 times)		 - r.spl? p.(Gly38Ser) LAMA2_00309 - germline (inherited) - DNA PCR, SEQ - -
1i c.112+1G>A
  (Reported 2 times)		 - r.spl? p.? LAMA2_00260 - germline (inherited) Geranmayeh 2010 DNA SEQ - -
1i c.(112+?_113-?)? 162ins75 r.[112_113ins112+1_112+75{?}] p.(fs*) LAMA2_00006 - germline (inherited) Hayashi 1997 DNA, RNA RT-PCR, SEQ - -
1i c.112+3A>G 161+3A>G r.spl? p.? LAMA2_00084 - germline (inherited) Allamand 2002 DNA SEQ - -
2 c.156C>T
  (Reported 4 times)		 - r.(?) p.(=) LAMA2_00153 - germline (inherited) - DNA SEQ - -
2 c.164delA - r.(?) p.(Asn55Metfs*16) LAMA2_00232 - germline (inherited) - DNA PCR, SEQ - -
2 c.184G>T - r.(?) p.(Gly62*) LAMA2_00315 - unknown from website Emory Genetics Lab DNA SEQ - -
2 c.(247T>C)
  (Reported 2 times)		 - r.(247u>c) p.Cys83Arg LAMA2_00000 - animal model Patton 2008 DNA, RNA RT-PCR, SEQ - -
2 c.257G>A - r.(?) p.(Cys86Tyr) LAMA2_00007 - germline (inherited) Subm. FMuntoni DNA SEQ - -
2 c.283C>T
  (Reported 2 times)		 - r.283c>u p.Gln95* LAMA2_00136 - germline (inherited) Di Blasi 2005 DNA, RNA RT-PCR, SEQ - -
2i c.(283+1G>A)
  (Reported 2 times)		 - r.spl? p.(Val78_Gln132del) LAMA2_00000 - germline (inherited) Hu 1994 DNA, RNA RT-PCR, SEQ - -
2i c.283+1G>A - r.spl? p.? LAMA2_00261 - germline (inherited) Geranmayeh 2010 DNA SEQ - -
2i c.283+2delT - r.spl? p.(del?) LAMA2_00073 - germline (inherited) - DNA PCR, SEQ - -
2i c.284-131C>T
  (Reported 2 times)		 - r.(=) p.(=) LAMA2_00154 - germline (inherited) - DNA SEQ 0.11 -
2i c.284-85delinsGG - r.(=) p.(=) LAMA2_00155 - germline (inherited) Oliveira 2008 DNA SEQ 5/50 -
3 c.363C>A - r.(?) p.(Tyr121*) LAMA2_00152 - germline (inherited) Oliveira 2008 DNA SEQ - -
3 c.381C>A
  (Reported 3 times)		 430A>C (error) r.381c>a p.= LAMA2_00110 - germline (inherited) Tezak 2003 DNA, RNA RT-PCR, SSCA, DHPLC 0.02 -
3 c.391C>T - r.(?) p.(Gln131*) LAMA2_00262 - germline (inherited) Geranmayeh 2010 DNA SEQ - -
3i c.396+1G>T
  (Reported 3 times)		 - r.spl? p.? LAMA2_00210 - germline (inherited) - DNA SEQ - -
3i c.397-15G>A - r.(?) p.(=) LAMA2_00316 - unknown from website Emory Genetics Lab DNA SEQ - -
3i_4 c.397-13_398del 397-1_397-15del r.(?) p.(Val133Argfs*5) LAMA2_00294 not in 100 control chromosomes; reports r.397_403del but no AG splice acceptor? germline (inherited) Gavassini 2011 DNA SEQ - -
4 c.411G>A 460G>A r.411g>a p.= LAMA2_00111 - germline (inherited) Tezak 2003 DNA, RNA RT-PCR, SSCA, DHPLC 0.02 -
4 c.412T>C
  (Reported 2 times)		 - r.(=) p.(Tyr138His) LAMA2_00193 - germline (inherited) - DNA SEQ - -
4 c.437C>T - r.(?) p.(Ser146Phe) LAMA2_00278 - germline (inherited) - DNA PCR, SEQ - -
4 c.454T>G
  (Reported 2 times)		 - r.(?) p.(Trp152Gly) LAMA2_00295 not in 100 control chromosomes germline (inherited) Gavassini 2011 DNA SEQ - -
4 c.470C>T - r.(?) p.(Ser157Phe) LAMA2_00263 - germline (inherited) Geranmayeh 2010 DNA SEQ - -
4 c.498G>A
  (Reported 2 times)		 547G>A r.498g>a p.Trp166* LAMA2_00008 - germline (inherited) Mendell 1997 DNA, RNA RT-PCR, SSCA, SEQ - -
4 c.500A>C
  (Reported 2 times)		 - r.(?) p.(Gln167Pro) LAMA2_00144 not in 200 control chromosomes germline (inherited) Di Blasi 2005 DNA SEQ - -
4 c.533C>T - r.(?) p.(Thr178Met) LAMA2_00317 - unknown from website Emory Genetics Lab DNA SEQ - -
4 c.628G>T 677G>T r.628g>u p.Glu210* LAMA2_00009 - germline (inherited) Guicheney 1997 DNA, RNA RT-PCR, SSCA - -
4i c.639+2T>A - r.spl? p.(del?) LAMA2_00274 - germline (inherited) - DNA PCR, SEQ - -
4i c.640-26G>A - r.(?) p.(=) LAMA2_00318 - unknown from website Emory Genetics Lab DNA SEQ - -
4i_12i c.640-?_1782+?del g.(129503539_129507201)_(129573766_129593644)dup r.(dup) p.(dup?) LAMA2_00080 48.8 Kb duplication (also described as del ex5-10) germline (inherited) Piluso 2011 DNA SEQ - -
5 c.675C>T - r.(?) p.(=) LAMA2_00319 - unknown from website Emory Genetics Lab DNA SEQ - -
5 c.713C>A - r.(?) p.(Ala238Asp) LAMA2_00320 - unknown from website Emory Genetics Lab DNA SEQ - -
5 c.728T>C
  (Reported 2 times)		 - r.(?) p.(Leu243Pro) LAMA2_00291 not in 100 control chromosomes germline (inherited) Gavassini 2011 DNA SEQ - -
5 c.745C>T - r.(?) p.(Arg249Cys) LAMA2_00211 - germline (inherited) - DNA SEQ - -
5 c.817A>T
  (Reported 2 times)		 - r,(?) p.(Arg273*) LAMA2_00271 - germline (inherited) Wang 2010 DNA SEQ - -
5 c.818G>A - r.(?) p.(Arg273Lys) LAMA2_00240 - germline (inherited) - DNA PCR, SEQ - -
5i c.819+197G>A
  (Reported 2 times)		 - r.(=) p.(=) LAMA2_00156 - germline (inherited) - DNA SEQ 0.06 -
6 c.825delC - r.(?) p.(Tyr276Thrfs*61) LAMA2_00138 - germline (inherited) Di Blasi 2005, (OMIM 0014) DNA SEQ - -
6 c.830C>T - r.(?) p.(Ser277Leu) LAMA2_00321 - unknown from website Emory Genetics Lab DNA SEQ - -
6 c.846A>T 895A>T ex5 r.846a>u p.= LAMA2_00112 - germline (inherited) Tezak 2003 DNA, RNA RT-PCR, SSCA, DHPLC 0.06 -
6 c.850G>A
  (Reported 2 times)		 - r.(?) p.(Gly284Arg) LAMA2_00290 not in 100 control chromosomes germline (inherited) Gavassini 2011 DNA SEQ - -
6 c.855G>T - r.(spl?) p.(fs*?) LAMA2_00268 in silico prediction; splice donor site created germline (inherited) - DNA PCR, SEQ - -
6i c.909+95A>T
  (Reported 2 times)		 - r.(=) p.(=) LAMA2_00157 - germline (inherited) - DNA SEQ 0.06 -
6i c.910-1G>T
  (Reported 2 times)		 - r.spl? p.? LAMA2_00231 apparently homozygous germline (inherited) - DNA SEQ - -
7 c.939_940del
  (Reported 2 times)		 939_940delAT r.(?) p.(Cys314Trpfs*3) LAMA2_00322 - unknown from website Emory Genetics Lab DNA SEQ - -
7 c.939_940delAT
  (Reported 4 times)		 - r.(?) p.(Cys314Trpfs*3) LAMA2_00216 - germline (inherited) - DNA SEQ - -
7 c.951_952dup
  (Reported 2 times)		 1001-1002ins r.951_952dup p.Cys318Serfs*20 LAMA2_00010 - germline (inherited) Pegoraro 1998 DNA, RNA PTT, SSCA, SEQ - -
7 c.981G>A G1030A r.981g>a p.= LAMA2_00094 - germline (inherited) Pegoraro 1998 DNA, RNA PTT, SSCA, SEQ - -
7 c.991A>T - r.(?) p.(Arg331*) LAMA2_00305 - germline (inherited) - DNA PCR, SEQ - -
7i c.1027+3A>G - r.(spl?) p.(fs*?) LAMA2_00245 - germline (inherited) - DNA PCR, SEQ - -
8 c.1076T>C 1125T>C ex7 r.1076u>c p.Val359Ala LAMA2_00113 - germline (inherited) Tezak 2003 DNA, RNA RT-PCR, SSCA, DHPLC 0.10 -
8 c.1177T>G
  (Reported 2 times)		 - r.(?) p.(Cys393Gly) LAMA2_00187 - germline (inherited) - DNA SEQ - -
8 c.1182T>A A1231T r.1182u>a p.= LAMA2_00095 - germline (inherited) Pegoraro 1998, Tezak 2003 DNA, RNA PTT, SSCA, SEQ 0.63 -
8i c.1206+2T>G - r.spl? p.? LAMA2_00011 - germline (inherited) Subm. FMuntoni DNA SEQ - -
8i c.1206+11C>T
  (Reported 2 times)		 - r.(spl?) p.(fs*?) LAMA2_00269 - germline (inherited) - DNA PCR, SEQ - -
8i c.1207-1G>A
  (Reported 2 times)		 - r.spl? p.? LAMA2_00264 - germline (inherited) Geranmayeh 2010 DNA SEQ - -
8i c.1207-1G>C - r.spl? p.? LAMA2_00085 - germline (inherited) acc. to Allamand 2002 DNA SEQ - -
9 c.1303C>T - r.(?) p.(Arg435*) LAMA2_00265 - germline (inherited) Geranmayeh 2010 DNA SEQ - -
9i c.1306+93T>C
  (Reported 2 times)		 - r.(=) p.(=) LAMA2_00158 - germline (inherited) - DNA SEQ 0.11 -
9i c.1307-115A>C - r.(=) p.(=) LAMA2_00281 - germline (inherited) Oliveira 2008 DNA SEQ - -
9i c.1307-2A>G - r.spl? p.? LAMA2_00266 - germline (inherited) Geranmayeh 2010 DNA SEQ - -
10 c.1326T>G
  (Reported 2 times)		 - r.(?) p.(Cys442Trp) LAMA2_00203 - germline (inherited) - DNA SEQ - -
10 c.1377delC 1426delC r.(?) p.(Tyr460Thrfs*15) LAMA2_00012 - germline (inherited) Allamand 2002 DNA SEQ - -
10 c.1403C>G - r.(?) p.(Ala468Gly) LAMA2_00323 - unknown from website Emory Genetics Lab DNA SEQ - -
10 c.1419G>A 1468G>A ex9 r.1419g>a p.= LAMA2_00114 - germline (inherited) Tezak 2003 DNA, RNA RT-PCR, SSCA, DHPLC 0.03 -
10i c.1468-122G>A - r.(=) p.(=) LAMA2_00282 - germline (inherited) Oliveira 2008 DNA SEQ - -
11 c.1490_1491del 1539delGT ex10 r.(?) p.(Cys497*) LAMA2_00013 - germline (inherited) Guicheney 1998 DNA SSCA - SpeI+
11 c.1491T>C
  (Reported 5 times)		 - r.1491u>c p.= LAMA2_00083 - germline (inherited) Helbling-Leclerc DNA, RNA RT-PCR, SSCA, SEQ - -
11 c.1533T>C - r.(?) p.(=) LAMA2_00324 - unknown from website Emory Genetics Lab DNA SEQ - -
11 c.1547A>G - r.(spl?) p.(Asp516Gly) LAMA2_00371 - germline (inherited) - DNA PCR, SEQ - -
11 c.1580G>A 1629G>A r.1580g>a p.Cys527Tyr LAMA2_00132 not in 100 normal chromosomes germline (inherited) Tezak 2003, (OMIM 0010) DNA, RNA RT-PCR, DHPLC - -
11i c.1609-41_1609-7inv 1609-41_1609-7inv35 r.(spl?) p.? LAMA2_00302 - germline (inherited) - DNA PCR, SEQ - -
12 c.1612C>T - r.(?) p.(Gln538*) LAMA2_00325 - unknown from website Emory Genetics Lab DNA SEQ - -
12 c.1634T>A
  (Reported 2 times)		 1683T>A ex11 r.1634u>a p.Leu545Gln LAMA2_00087 - germline (inherited) Panicker 1999, Human Mutation MPR43 DNA, RNA RT-PCR, SEQ 1/234 -
12 c.1669C>T
  (Reported 2 times)		 - r.(?) p.(Gln557*) LAMA2_00137 - germline (inherited) Di Blasi 2005 DNA SEQ - -
12 c.1701C>T - r.(?) p.(=) LAMA2_00326 - unknown from website Emory Genetics Lab DNA SEQ - -
12 c.1762delG
  (Reported 5 times)		 - r.(?) p.(Ala588Leufs*11) LAMA2_00182 - germline (inherited) - DNA SEQ - -
12i c.1782+10C>T - r.(?) p.(=) LAMA2_00217 DNA analyzed by exon sequencing at Prevention Genetics germline (inherited) - DNA PCR - -
12i_37i c.1783-19594_5445+1681del g.(129555720_129612876)_(129756115_129764002)del r.(del) p.(del) LAMA2_00257 164.4 Kb deletion germline (inherited) Piluso 2011 DNA SEQ - -
12 c.1793_1795del 1841-1843del r.(?) p.(Val598del) LAMA2_00014 - germline (inherited) Allamand 2002 DNA SEQ - -
13 c.1798G>A
  (Reported 4 times)		 1847G>A ex12 r.1798g>a p.Gly600Arg LAMA2_00090 - germline (inherited) Tezak 2003 DNA, RNA RT-PCR, SSCA, DHPLC 0.06 MnlI-
13 c.1798_1800del
  (Reported 2 times)		 - r.(=) p.(Gly600del) LAMA2_00192 - germline (inherited) - DNA SEQ - -
13 c.1823_1824del
  (Reported 2 times)		 - r.(?) p.(Tyr608*) LAMA2_00276 - germline (inherited) - DNA PCR, SEQ - -
13 c.1854_1861dup
  (Reported 5 times)		 1903-1910dup r.(?) p.(Leu621Hisfs*7) LAMA2_00015 - germline (inherited) Allamand 2002 DNA SEQ - -
13 c.1856G>A
  (Reported 9 times)		 G1905A ex12 r.1856g>a p.Arg619His LAMA2_00016 - germline (inherited) Tezak 2003 DNA, RNA PTT, SSCA, SEQ 0.06 -
13 c.1884G>A
  (Reported 2 times)		 - r.(spl?) p.(?) LAMA2_00118 - germline (inherited) - DNA SEQ - -
13i c.1884+50A>C - r.(=) p.(=) LAMA2_00207 - germline (inherited) - DNA SEQ - -
14 c.1893_1897del
  (Reported 6 times)		 1939-1943del r.1893_1897del p.Asp631Glufs*8 LAMA2_00017 - germline (inherited) Hayashi 1997 DNA, RNA RT-PCR, SEQ - -
14 c.1976C>A - r.(?) p.(Ser659*) LAMA2_00220 - germline (inherited) - DNA PCR, SEQ - -
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Legend: [ LAMA2 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Exon: number of exon/intron containing variant DNA change: DNA change Var_pub_as: Var_pub_as RNA change: RNA change Protein change: Protein change LAMA2 DB-ID: DB-ID Variant remarks: Variant remarks Genet_ori: origin of variant; unknown, germline (i.e. inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) Reference: publication describing the variant submitted, incl. links to OMIM and dbSNP (when available) Template: Template Technique: Technique Frequency: Frequency RE-site: RE-site

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