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 VWF:c.4517C>T, p.Ser1506Leu

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
6128067	6018901

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.4517C>T

PROTEIN CHANGE

p.Ser1506Leu

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
0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.712702	Disease causing

DBSNP ID

2 combinations linked to VWF:c.4517C>T, p.Ser1506Leu

1 disease linked to VWF:c.4517C>T, p.Ser1506Leu

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