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Details for AHNAK:c.16348C>T, p.Pro5450Ser

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
62285541	62518069

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.16348C>T

PROTEIN CHANGE

p.Pro5450Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001086	0.0003691	0.0004048	0.0	0.0	0.000924	0.002014	0.0006515	0.0

ESP
AA	EA
0.0004541	0.002791

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	2.994436	Polymorphism

DBSNP ID

1 combination linked to AHNAK:c.16348C>T, p.Pro5450Ser

1 disease linked to AHNAK:c.16348C>T, p.Pro5450Ser

Amyotrophic lateral sclerosis

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