Variant "ABCB4:c.1529A>G(p.Asn510Ser)"
Search result: 1 record
Variant information
Gene:
Variant:
ABCB4:c.1529A>G(p.Asn510Ser)
Genomic location:
chr7:87069546(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_018849.2:c.1529A>G(p.Asn510Ser) |
protein_coding | NM_000443.3:c.1529A>G(p.Asn510Ser) |
protein_coding | NM_018850.2:c.1529A>G(p.Asn510Ser) |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Penetrance(1)
Modifier effect:
Altered incidence(1)
Detail: