Variant "ABCB4:c.475C>T(p.Arg159*)"
Search result: 1 record
Variant information
Gene:
Variant:
ABCB4:c.475C>T(p.Arg159*)
Genomic location:
chr7:87082321(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_018849.2:c.475C>T(p.Arg159*) |
protein_coding | NM_000443.3:c.475C>T(p.Arg159*) |
protein_coding | NM_018850.2:c.475C>T(p.Arg159*) |
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: