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Details for APTX:c.431C>A, p.Ser144Tyr

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
32987594	32987596

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.431C>A

PROTEIN CHANGE

p.Ser144Tyr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0046	0.0015	0.0115	0.0	0.0129	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.005618	0.001169	0.004307	0.002581	0.0	0.002963	0.0098	0.00636	3.266e-05

ESP
AA	EA
0.002043	0.007791

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-0.564923	Polymorphism

DBSNP ID

1 combination linked to APTX:c.431C>A, p.Ser144Tyr

1 disease linked to APTX:c.431C>A, p.Ser144Tyr

Amyotrophic lateral sclerosis

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