Variant "MEFV:c.2177T>C(p.Val726Ala)"
Search result: 1 record
Variant information
Gene:
Variant:
MEFV:c.2177T>C(p.Val726Ala)
Genomic location:
chr16:3293310(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_000243.2:c.2177T>C(p.Val726Ala) |
protein_coding | 4CG4:B_726-B_746:NM_000243.2:c.2177T>C |
protein_coding | NM_001198536.1:c.*381T>C |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Risk factor(1)
Detail: