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Details for HTT:c.8215G>A, p.Ala2739Thr

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
3231719	3229992

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.8215G>A

PROTEIN CHANGE

p.Ala2739Thr

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
8.442e-05	6.456e-05	0.0	0.0	0.0	0.0001392	0.0001422	0.0001649	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-0.159303	Polymorphism

DBSNP ID

1 combination linked to HTT:c.8215G>A, p.Ala2739Thr

1 disease linked to HTT:c.8215G>A, p.Ala2739Thr

Amyotrophic lateral sclerosis

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