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Details for CDH23:c.6512G>A, p.Arg2176His

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
73553197	71793440

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.6512G>A

PROTEIN CHANGE

p.Arg2176His

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0008	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
4.821e-05	6.455e-05	0.0001738	0.0	0.0	0.0	4.438e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.041123	Polymorphism

DBSNP ID

1 combination linked to CDH23:c.6512G>A, p.Arg2176His

2 diseases linked to CDH23:c.6512G>A, p.Arg2176His

Meniere Disease; Atypical hemolytic uremic syndrome

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