Variant "SOD2:c.47T>C(p.Ala16Val)"
Search results: 4 records
Variant information
Gene:
Variant:
SOD2:c.47T>C(p.Ala16Val)
Genomic location:
chr6:160113872(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_000636.3:c.47T>C(p.Val16Ala) |
protein_coding | NM_001024465.2:c.47T>C(p.Val16Ala) |
protein_coding | NM_001024466.2:c.47T>C(p.Val16Ala) |
protein_coding | NM_001322814.1:c.47T>C(p.Val16Ala) |
protein_coding | NM_001322815.1:c.47T>C(p.Val16Ala) |
show all |
Alias:
SOD2:C47T, SOD2:c.47T>C, SOD2:c.47C>T
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
4
Disorder:
3
Reference:
4
Effect type:
Expressivity(3)
,Penetrance(1)
Modifier effect:
Altered incidence(1)
,Altered onset time(1)
,Altered severity(1)
,Risk factor(1)
Details: