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Details for ADGRV1:p.Gln5459His

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
90124769	90828952

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Gln5459His

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
Tolerated	Benign	0.557316	Polymorphism

DBSNP ID

1 combination linked to ADGRV1:p.Gln5459His

1 disease linked to ADGRV1:p.Gln5459His

Usher syndrome type 1

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