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Details for NPHP4:c.1880C>T, p.Thr627Met

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
5965427	5905367

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1880C>T

PROTEIN CHANGE

p.Thr627Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0014	0.0	0.0	0.002

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002126	0.0	0.0001159	0.0	0.0	0.0	0.000115	0.0003303	0.001111

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.020103	Disease causing

DBSNP ID

1 combination linked to NPHP4:c.1880C>T, p.Thr627Met

1 disease linked to NPHP4:c.1880C>T, p.Thr627Met

Bardet-Biedl syndrome

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