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Details for ADGRV1:c.13418T>A, p.Ile4473Asn

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
90079127	90783310

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.13418T>A

PROTEIN CHANGE

p.Ile4473Asn

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	2.575127	Polymorphism

DBSNP ID

1 combination linked to ADGRV1:c.13418T>A, p.Ile4473Asn

1 disease linked to ADGRV1:c.13418T>A, p.Ile4473Asn

Non-syndromic genetic deafness

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