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Details for CDH23:c.3845A>G, p.Asn1282Ser

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
73491873	71732116

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.3845A>G

PROTEIN CHANGE

p.Asn1282Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0012	0.0	0.0014	0.0	0.005	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002933	0.001226	0.001361	9.936e-05	0.0	0.001996	0.005318	0.003304	0.0

ESP
AA	EA
0.0009333	0.004733

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	2.837978	Polymorphism

DBSNP ID

1 combination linked to CDH23:c.3845A>G, p.Asn1282Ser

2 diseases linked to CDH23:c.3845A>G, p.Asn1282Ser

Meniere Disease; Atypical hemolytic uremic syndrome

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