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Details for EGFR:c.2884C>T, p.Arg962Cys

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
55268044	55200351

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.2884C>T

PROTEIN CHANGE

p.Arg962Cys

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
8.35e-05	0.0	5.782e-05	0.0	0.0	0.0	0.0001406	0.0	9.799e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.598146	Disease causing

DBSNP ID

1 combination linked to EGFR:c.2884C>T, p.Arg962Cys

1 disease linked to EGFR:c.2884C>T, p.Arg962Cys

Recurrent Pregnancy Loss,Recurrent implantation failure,Primary infertility

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