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Details for TAF15:c.610G>A, p.Gly204Ser

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
34160924	35833920

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.610G>A

PROTEIN CHANGE

p.Gly204Ser

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
3.182e-05	0.0	0.0001156	0.0	0.0	0.0	2.638e-05	0.0	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.394576	Polymorphism

DBSNP ID

1 combination linked to TAF15:c.610G>A, p.Gly204Ser

1 disease linked to TAF15:c.610G>A, p.Gly204Ser

Amyotrophic lateral sclerosis

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