This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for KCNE1:c.253G>A, p.Asp85Asn

CHROMOSOME

21

GENOMIC COORDINATES

hg19	hg38
35821680	34449382

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.253G>A

PROTEIN CHANGE

p.Asp85Asn

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0038	0.0015	0.0029	0.005	0.0089	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.009438	0.0024	0.002718	0.0254	0.005492	0.01691	0.01249	0.008795	0.001404

ESP
AA	EA
0.002043	0.01221

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	1.672021	Polymorphism

DBSNP ID

10 combinations linked to KCNE1:c.253G>A, p.Asp85Asn

OLI1217; OLI1218; OLI1219; OLI1221; OLI1222; OLI1223; OLI1224; OLI1225; OLI1226; OLI1228

1 disease linked to KCNE1:c.253G>A, p.Asp85Asn

Familial long QT syndrome

Found any issues with the data on this page? Report this entry.