Variant "SCN11A:c.2432T>C(p.Leu811Pro)"
Search result: 1 record
Variant information
Gene:
Variant:
SCN11A:c.2432T>C(p.Leu811Pro)
Genomic location:
chr3:38936427(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_001287223.1:c.2432T>C(p.Leu811Pro) |
protein_coding | NM_014139.2:c.2432T>C(p.Leu811Pro) |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered sensitivity to pain(1)
Detail: