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 EGF:c.3487C>T, p.Arg1163Ter

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
110932474	110011318

VARIANT EFFECT

nonsense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.3487C>T

PROTEIN CHANGE

p.Arg1163Ter

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.001	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001754	6.157e-05	0.0	0.0	0.002285	0.0	8.838e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	5.717247	Disease causing

DBSNP ID

1 combination linked to EGF:c.3487C>T, p.Arg1163Ter

1 disease linked to EGF:c.3487C>T, p.Arg1163Ter

Kallmann syndrome

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