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Details for AR:c.341C>A, p.Ala114Asp

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
66931295	67711453

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.341C>A

PROTEIN CHANGE

p.Ala114Asp

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
0.001129	0.0001677	0.0001549	0.0	0.0	0.000408	0.002433	0.0002398	0.0

ESP
AA	EA
0.0	0.002527

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.34997	Polymorphism

DBSNP ID

1 combination linked to AR:c.341C>A, p.Ala114Asp

1 disease linked to AR:c.341C>A, p.Ala114Asp

Amyotrophic lateral sclerosis

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