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 SCN5A:c.4844TCTT>T, p.Phe1617del

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
38593012	38551521

VARIANT EFFECT

deletion

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

GAAG

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.4844TCTT>T

PROTEIN CHANGE

p.Phe1617del

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	2.186638	Disease causing

DBSNP ID

1 combination linked to SCN5A:c.4844TCTT>T, p.Phe1617del

1 disease linked to SCN5A:c.4844TCTT>T, p.Phe1617del

Familial long QT syndrome

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