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Details for GRWD1:c.1172C>T, p.Ala391Val

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
48956113	48452856

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1172C>T

PROTEIN CHANGE

p.Ala391Val

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
0.0001051	0.0	5.799e-05	0.0	0.0	4.792e-05	0.0001978	0.0001649	0.0

ESP
AA	EA
0.0	0.0003489

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.185433	Polymorphism

DBSNP ID

1 combination linked to GRWD1:c.1172C>T, p.Ala391Val

1 disease linked to GRWD1:c.1172C>T, p.Ala391Val

Amyotrophic lateral sclerosis

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