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Details for NEFH:c.883G>A, p.Val295Met

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
29877134	29481145

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.883G>A

PROTEIN CHANGE

p.Val295Met

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
7.858e-06	0.0	0.0	0.0	0.0	0.0	0.0	0.0	4.479e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	5.288611	Disease causing

DBSNP ID

1 combination linked to NEFH:c.883G>A, p.Val295Met

1 disease linked to NEFH:c.883G>A, p.Val295Met

Amyotrophic lateral sclerosis

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