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 NPHP4:c.2219G>A, p.Arg740His

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
5951013	5890953

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2219G>A

PROTEIN CHANGE

p.Arg740His

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0094	0.0008	0.0101	0.001	0.0199	0.0184

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.02469	0.004996	0.009935	0.03528	0.0003441	0.0354	0.03259	0.02579	0.02525

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-0.343399	Polymorphism

DBSNP ID

1 combination linked to NPHP4:c.2219G>A, p.Arg740His

1 disease linked to NPHP4:c.2219G>A, p.Arg740His

Bardet-Biedl syndrome

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