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Details for PDZD7:c.1543C>T, p.Gln515Ter

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
102776164	101016407

VARIANT EFFECT

nonsense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1543C>T

PROTEIN CHANGE

p.Gln515Ter

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
1.341e-05	0.0	0.0	0.0	0.0	0.0	3.634e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	2.001298	None

DBSNP ID

1 combination linked to PDZD7:c.1543C>T, p.Gln515Ter

1 disease linked to PDZD7:c.1543C>T, p.Gln515Ter

Retinitis pigmentosa

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