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Details for PDZD7:c.76_77del, p.Ser26LeufsTer53

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
102789899	101030142

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

GGA

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.76_77del

PROTEIN CHANGE

p.Ser26LeufsTer53

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	4.116419	Disease causing

DBSNP ID

1 combination linked to PDZD7:c.76_77del, p.Ser26LeufsTer53

1 disease linked to PDZD7:c.76_77del, p.Ser26LeufsTer53

Non-syndromic genetic deafness

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