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Details for EGFR:c.3250G>A, p.Asp1084Asn

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
55270297	55202604

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.3250G>A

PROTEIN CHANGE

p.Asp1084Asn

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
4.01e-06	0.0	0.0	0.0	0.0	0.0	8.88e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	2.876598	Polymorphism

DBSNP ID

1 combination linked to EGFR:c.3250G>A, p.Asp1084Asn

1 disease linked to EGFR:c.3250G>A, p.Asp1084Asn

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