Variant "SCN5A:c.3308C>A(p.Ser1103Tyr)"
Search results: 2 records
Variant information
Gene:
Variant:
SCN5A:c.3308C>A(p.Ser1103Tyr)
Genomic location:
chr3:38620907(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_001099404.1:c.3308C>A(p.Ser1103Tyr) |
protein_coding | NM_001099405.1:c.3308C>A(p.Ser1103Tyr) |
protein_coding | NM_198056.2:c.3308C>A(p.Ser1103Tyr) |
protein_coding | NM_000335.4:c.3305C>A(p.Ser1102Tyr) |
protein_coding | NM_001160160.1:c.3305C>A(p.Ser1102Tyr) |
show all |
Alias:
SCN5A:S1103Y
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
2
Disorder:
1
Reference:
2
Effect type:
Expressivity(2)
Modifier effect:
Altered severity(1)
,Risk factor(1)
Details: