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Details for EGFR:c.2492G>A, p.Arg831His

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
55259434	55191741

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2492G>A

PROTEIN CHANGE

p.Arg831His

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
4.779e-05	0.0	8.673e-05	0.0	0.0	0.0	1.761e-05	0.0	0.0002287

ESP
AA	EA
0.0	0.0002326

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.890133	Disease causing

DBSNP ID

1 combination linked to EGFR:c.2492G>A, p.Arg831His

1 disease linked to EGFR:c.2492G>A, p.Arg831His

Kallmann syndrome

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