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Details for FIG4:c.1879A>G, p.Thr627Ala

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
110098253	109777050

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.1879A>G

PROTEIN CHANGE

p.Thr627Ala

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
0.0001195	0.0	0.0	0.0	0.0	0.0	2.642e-05	0.0003278	0.0008168

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.610153	Polymorphism

DBSNP ID

1 combination linked to FIG4:c.1879A>G, p.Thr627Ala

1 disease linked to FIG4:c.1879A>G, p.Thr627Ala

Amyotrophic lateral sclerosis

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