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Details for NPHP4:c.3364delACTG, p.Thr1122TrpfsTer22

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
5927904	5867844

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

ACAGT

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.3364delACTG

PROTEIN CHANGE

p.Thr1122TrpfsTer22

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	5.155698	Disease causing

DBSNP ID

1 combination linked to NPHP4:c.3364delACTG, p.Thr1122TrpfsTer22

1 disease linked to NPHP4:c.3364delACTG, p.Thr1122TrpfsTer22

Nephronophthisis

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