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Details for ERBB4:c.2395A>G, p.Met799Val

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
212426720	211561995

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.2395A>G

PROTEIN CHANGE

p.Met799Val

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
3.977e-06	0.0	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	3.565261	Disease causing

DBSNP ID

1 combination linked to ERBB4:c.2395A>G, p.Met799Val

1 disease linked to ERBB4:c.2395A>G, p.Met799Val

Amyotrophic lateral sclerosis

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