Variant "SCARB2:c.1412A>T(p.Glu471Val)"
Search result: 1 record
Variant information
Gene:
Variant:
SCARB2:c.1412A>T(p.Glu471Val)
Genomic location:
chr4:77082891(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_005506.3:c.1412A>T(p.Glu471Val) |
protein_coding | NM_001204255.1:c.983A>T(p.Glu328Val) |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered glucocerebrosidase(1)
Detail: