Variant "ABCB4:c.2210C>T(p.Ala737Val)"
Search result: 1 record
Variant information
Gene:
Variant:
ABCB4:c.2210C>T(p.Ala737Val)
Genomic location:
chr7:87053223(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_018849.2:c.2210C>T(p.Ala737Val) |
protein_coding | NM_000443.3:c.2210C>T(p.Ala737Val) |
protein_coding | NM_018850.2:c.2210C>T(p.Ala737Val) |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered gene activity(1)
Detail: