Variant "IDH2:c.263G>T(p.Arg140Leu)"
Search results: 3 records
Variant information
Gene:
Variant:
IDH2:c.263G>T(p.Arg140Leu)
Genomic location:
chr15:90631934(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_001289910.1:c.263G>T(p.Arg88Leu) |
protein_coding | NM_002168.3:c.419G>T(p.Arg140Leu) |
protein_coding | NM_001290114.1:c.29G>T(p.Arg10Leu) |
Alias:
IDH2:p.R140W, IDH2:p.R140Q
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
3
Disorder:
2
Reference:
2
Effect type:
Expressivity(3)
Modifier effect:
Risk factor(2)
,Altered gene activity(1)
Details: