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Details for USH1C:c.238_239dupC, p.Arg80fsTer69

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
17552955	17531408

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

CG

TRANSCRIPT

CDNA CHANGE

c.238_239dupC

PROTEIN CHANGE

p.Arg80fsTer69

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
0.0002803	0.0	0.0003777	0.00199	0.0	0.0	0.0003104	0.0003281	0.0

ESP
AA	EA
0.0	0.0002423

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	4.69193	Disease causing

DBSNP ID

1 combination linked to USH1C:c.238_239dupC, p.Arg80fsTer69

1 disease linked to USH1C:c.238_239dupC, p.Arg80fsTer69

Usher syndrome type 1

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