Variant "KCNE1:c.121A>G(p.Ser41Gly)"
Search results: 2 records
Variant information
Gene:
Variant:
KCNE1:c.121A>G(p.Ser41Gly)
Genomic location:
chr21:35821821(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_001330065.1:c.121A>G(p.Ser41Gly) |
protein_coding | NM_000219.5:c.112A>G(p.Ser38Gly) |
protein_coding | NM_001127670.3:c.112A>G(p.Ser38Gly) |
protein_coding | NM_001127668.3:c.112A>G(p.Ser38Gly) |
protein_coding | NM_001127669.3:c.112A>G(p.Ser38Gly) |
show all |
Alias:
KCNE1:S38G
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
2
Disorder:
2
Reference:
2
Effect type:
Expressivity(2)
Modifier effect:
Altered severity(1)
,Risk factor(1)
Details: