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Details for ADGRV1:c.16640G>A, p.Arg5547His

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
90136423	90840606

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.16640G>A

PROTEIN CHANGE

p.Arg5547His

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
0.000105	0.0004525	0.0002622	0.0	5.565e-05	4.68e-05	4.453e-05	0.0001663	6.593e-05

ESP
AA	EA
0.0	0.0001212

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.970194	Polymorphism

DBSNP ID

1 combination linked to ADGRV1:c.16640G>A, p.Arg5547His

2 diseases linked to ADGRV1:c.16640G>A, p.Arg5547His

Meniere Disease; Atypical hemolytic uremic syndrome

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