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Details for SETX:c.7114C>T, p.Asp2372Asn

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
135147182	132271795

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.7114C>T

PROTEIN CHANGE

p.Asp2372Asn

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0084	0.0	0.0144	0.0179	0.0	0.0143

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.006093	0.0003076	0.02781	0.0	0.01903	0.0	7.912e-05	0.004886	0.005749

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.98701	Polymorphism

DBSNP ID

1 combination linked to SETX:c.7114C>T, p.Asp2372Asn

1 disease linked to SETX:c.7114C>T, p.Asp2372Asn

Amyotrophic lateral sclerosis

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