Variant "KCNQ1:c.1343C>T(p.Pro448Leu)"
Search result: 1 record
Variant information
Gene:
Variant:
KCNQ1:c.1343C>T(p.Pro448Leu)
Genomic location:
chr11:2610034(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_000218.2:c.1343C>T(p.Pro448Leu) |
protein_coding | NM_181798.1:c.962C>T(p.Pro321Leu) |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Risk factor(1)
Detail: