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Details for HEXB:c.214C>T, p.Leu72Phe

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
73981299	74685474

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.214C>T

PROTEIN CHANGE

p.Leu72Phe

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0042	0.0	0.0029	0.001	0.0139	0.0041

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.007765	0.001911	0.004881	0.01416	5.58e-05	0.007766	0.01001	0.01068	0.007678

ESP
AA	EA
0.003404	0.01117

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	1.84222	Polymorphism

DBSNP ID

1 combination linked to HEXB:c.214C>T, p.Leu72Phe

1 disease linked to HEXB:c.214C>T, p.Leu72Phe

Amyotrophic lateral sclerosis

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