Variant "KCNE1:c.253G>A(p.Asp85Asn)"
Search results: 4 records
Variant information
Gene:
Variant:
KCNE1:c.253G>A(p.Asp85Asn)
Genomic location:
chr21:35821680(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_001330065.1:c.262G>A(p.Asp88Asn) |
protein_coding | NM_000219.5:c.253G>A(p.Asp85Asn) |
protein_coding | NM_001127670.3:c.253G>A(p.Asp85Asn) |
protein_coding | NM_001127668.3:c.253G>A(p.Asp85Asn) |
protein_coding | NM_001127669.3:c.253G>A(p.Asp85Asn) |
show all |
Alias:
KCNE1:D85N, KCNE1:c.253G>A(p.Asp85Asn), KCNE1:rs1805128
dbSNP ID:
GWAS trait:
Modifier statisitcs
Record:
4
Disorder:
2
Reference:
4
Effect type:
Expressivity(4)
Modifier effect:
Risk factor(3)
,Altered severity(1)
Details: