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Details for NEFH:c.1514C>T, p.Pro505Leu

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
29885143	29489154

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed_and_verified

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1514C>T

PROTEIN CHANGE

p.Pro505Leu

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
3.999e-06	0.0	0.0	0.0	0.0	0.0	8.861e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.471895	Polymorphism

DBSNP ID

1 combination linked to NEFH:c.1514C>T, p.Pro505Leu

1 disease linked to NEFH:c.1514C>T, p.Pro505Leu

Amyotrophic lateral sclerosis

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