Variant "ABCB4:c.835T>C(p.Tyr279His)"
Search result: 1 record
Variant information
Gene:
Variant:
ABCB4:c.835T>C(p.Tyr279His)
Genomic location:
chr7:87076520(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_018849.2:c.835T>C(p.Tyr279His) |
protein_coding | NM_000443.3:c.835T>C(p.Tyr279His) |
protein_coding | NM_018850.2:c.835T>C(p.Tyr279His) |
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: