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Details for CDH23:c.3301A>G, p.Ile1101Val

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
73472502	71712745

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.3301A>G

PROTEIN CHANGE

p.Ile1101Val

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
0.0001858	6.505e-05	0.0	0.0	0.0	0.0008364	0.0002327	0.0001661	0.0

ESP
AA	EA
0.0	0.0003565

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.031407	Polymorphism

DBSNP ID

1 combination linked to CDH23:c.3301A>G, p.Ile1101Val

1 disease linked to CDH23:c.3301A>G, p.Ile1101Val

Amyotrophic lateral sclerosis

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