Variant "KCNQ1:c.386+18089T>C"
Search results: 3 records
Variant information
Gene:
Variant:
KCNQ1:c.386+18089T>C
Genomic location:
chr11:2484803(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_000218.2:c.386+18089T>C |
protein_coding | NM_181798.1:c.5+1859T>C |
Alias:
KCNQ1:rs2074238
dbSNP ID:
GWAS trait:
Modifier statisitcs
Record:
3
Disorder:
1
Reference:
2
Effect type:
Penetrance(2)
,Expressivity(1)
Modifier effect:
Altered incidence(2)
,Altered severity(1)
Details: