LOVD - Variant listings for SMN1

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Patient data (#0000942)
Phenotype SMA-1
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 #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
Exon -
Genet_ori germline (inherited)
DNA change c.(?_-163)_(*575_?)del
Var_pub_as -
RNA change r.0
Protein change p.(0)
DB-ID SMN1_00036
Variant remarks -
Reference Wirth 1999
Template DNA
Technique SEQ
Frequency -
RE-site -

2 entries in SMN1

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 #2 - germline (inherited) c.(?_-163)_(*575_?)del - r.0 p.(0) SMN1_00036 - Wirth 1999 DNA SEQ - -
+/? Parent #1 2 germline (inherited) c.91dupT 124insT r.(?) p.(Ser31Phefs*2) SMN1_00005 - Wirth 1999 DNA SEQ - -

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