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Details for XK:c.1108T>G, p.Tyr370Asp

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
37587488	37728235

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1108T>G

PROTEIN CHANGE

p.Tyr370Asp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0005	0.0	0.0	0.0	0.0026	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002027	0.00038	7.312e-05	0.0	0.0	0.004262	0.003429	0.002212	0.0003145

ESP
AA	EA
0.0007827	0.001784

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.919778	Polymorphism

DBSNP ID

1 combination linked to XK:c.1108T>G, p.Tyr370Asp

1 disease linked to XK:c.1108T>G, p.Tyr370Asp

Amyotrophic lateral sclerosis

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