This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for ADGRV1:c.7582C>T, p.Pro2528Ser

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
89990155	90694338

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.7582C>T

PROTEIN CHANGE

p.Pro2528Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.004	0.0	0.0014	0.0	0.003	0.0164

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.004168	0.000323	0.002263	0.0002983	0.0	0.0006962	0.004119	0.003964	0.01464

ESP
AA	EA
0.00104	0.003619

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.37326	Polymorphism

DBSNP ID

1 combination linked to ADGRV1:c.7582C>T, p.Pro2528Ser

2 diseases linked to ADGRV1:c.7582C>T, p.Pro2528Ser

Meniere Disease; Atypical hemolytic uremic syndrome

Found any issues with the data on this page? Report this entry.