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Details for EGFR:c.500T>C, p.Ile167Thr

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
55214374	55146681

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.500T>C

PROTEIN CHANGE

p.Ile167Thr

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
7.955e-06	6.153e-05	0.0	0.0	5.437e-05	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.633242	Disease causing

DBSNP ID

1 combination linked to EGFR:c.500T>C, p.Ile167Thr

1 disease linked to EGFR:c.500T>C, p.Ile167Thr

Recurrent Pregnancy Loss,Recurrent implantation failure,Primary infertility

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