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Details for CFAP410:p.Arg172Trp

CHROMOSOME

21

GENOMIC COORDINATES

hg19	hg38
45751757	44331874

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Arg172Trp

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
0.0001176	0.0	0.0	0.002416	5.464e-05	0.0	9.035e-06	0.0	9.857e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	1.552101	Polymorphism

DBSNP ID

1 combination linked to CFAP410:p.Arg172Trp

1 disease linked to CFAP410:p.Arg172Trp

Amyotrophic lateral sclerosis

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