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 NPHP3:c.3662C>T, p.Ala1221Val

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
132402277	132683433

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.3662C>T

PROTEIN CHANGE

p.Ala1221Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0	0.0	0.0	0.0031

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002667	0.0	8.677e-05	0.0002978	5.438e-05	0.0	0.0001232	0.0003265	0.001438

ESP
AA	EA
0.0	0.0002326

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.806321	None

DBSNP ID

1 combination linked to NPHP3:c.3662C>T, p.Ala1221Val

1 disease linked to NPHP3:c.3662C>T, p.Ala1221Val

Nephronophthisis

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