Variant "ABCB4:c.523A>G(p.Thr175Ala)"
Search results: 3 records
Variant information
Gene:
Variant:
ABCB4:c.523A>G(p.Thr175Ala)
Genomic location:
chr7:87082273(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_018849.2:c.523A>G(p.Thr175Ala) |
protein_coding | NM_000443.3:c.523A>G(p.Thr175Ala) |
protein_coding | NM_018850.2:c.523A>G(p.Thr175Ala) |
Alias:
ABCB4:p.T175A, ABCB4:c.523A>G
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
3
Disorder:
3
Reference:
3
Effect type:
Expressivity(2)
,Penetrance(1)
Modifier effect:
Altered gene activity(1)
,Altered incidence(1)
,Altered severity(1)
Details: