Variant "CASQ2:c.196A>G(p.Thr66Ala)"
Search result: 1 record
Variant information
Gene:
Variant:
CASQ2:c.196A>G(p.Thr66Ala)
Genomic location:
chr1:116310967(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_001232.3:c.196A>G(p.Thr66Ala) |
dbSNP ID:
GWAS trait:
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Risk factor(1)
Detail: