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Details for PCDH15:c.16delT, p.Tyr6IlefsTer6

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
56424006	54664246

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

TA

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.16delT

PROTEIN CHANGE

p.Tyr6IlefsTer6

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	3.481587	Disease causing

DBSNP ID

1 combination linked to PCDH15:c.16delT, p.Tyr6IlefsTer6

1 disease linked to PCDH15:c.16delT, p.Tyr6IlefsTer6

Usher syndrome type 1

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