Variant "KCNQ1:c.1748G>A(p.Arg583His)"
Search result: 1 record
Variant information
Gene:
Variant:
KCNQ1:c.1748G>A(p.Arg583His)
Genomic location:
chr11:2799221(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_000218.2:c.1748G>A(p.Arg583His) |
protein_coding | NM_181798.1:c.1367G>A(p.Arg456His) |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered severity(1)
Detail: