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Details for PCDH15:c.3101G>A, p.Arg1034His

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
55719513	53959753

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.3101G>A

PROTEIN CHANGE

p.Arg1034His

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
7.957e-06	0.0	0.0	0.0	5.438e-05	0.0	0.0	0.0	3.267e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.553037	Disease causing

DBSNP ID

1 combination linked to PCDH15:c.3101G>A, p.Arg1034His

1 disease linked to PCDH15:c.3101G>A, p.Arg1034His

Non-syndromic genetic deafness

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