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Details for POU2F1:c.829C>T, p.Arg277Cys

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
167358840	167389603

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.829C>T

PROTEIN CHANGE

p.Arg277Cys

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
0.0001114	0.000123	0.0	0.0	0.0	9.243e-05	0.0002024	0.0	3.266e-05

ESP
AA	EA
0.0	0.0003488

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.842593	Polymorphism

DBSNP ID

1 combination linked to POU2F1:c.829C>T, p.Arg277Cys

1 disease linked to POU2F1:c.829C>T, p.Arg277Cys

Amyotrophic lateral sclerosis

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