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Details for NPHP4:c.2962G>A, p.Ala988Thr

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
5935016	5874956

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2962G>A

PROTEIN CHANGE

p.Ala988Thr

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
6.035e-05	0.0	0.0002028	0.0	5.564e-05	0.0	2.658e-05	0.0001654	9.805e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.364488	Polymorphism

DBSNP ID

1 combination linked to NPHP4:c.2962G>A, p.Ala988Thr

1 disease linked to NPHP4:c.2962G>A, p.Ala988Thr

Bardet-Biedl syndrome

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