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Details for TRIM42:p.Val630Met

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
140409837	140690995

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Val630Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.002	0.0023	0.0058	0.0	0.003	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003095	0.0006767	0.003412	0.0002976	5.437e-05	0.001618	0.00511	0.003911	0.0001633

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.429736	Polymorphism

DBSNP ID

1 combination linked to TRIM42:p.Val630Met

1 disease linked to TRIM42:p.Val630Met

Juvenile amyotrophic lateral sclerosis

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