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Details for TMPRSS3:c.208delC, p.His70ThrfsTer19

CHROMOSOME

21

GENOMIC COORDINATES

hg19	hg38
43809151	42389042

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

TG

ALTERNATE ALLELE

T

TRANSCRIPT

ENST00000291532.3

CDNA CHANGE

c.208delC

PROTEIN CHANGE

p.His70ThrfsTer19

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
0.0004896	0.0001231	5.786e-05	0.0009927	0.0	4.639e-05	0.0009327	0.0	6.534e-05

ESP
AA	EA
0.000469	0.0006058

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	4.153023	Disease causing

DBSNP ID

1 combination linked to TMPRSS3:c.208delC, p.His70ThrfsTer19

1 disease linked to TMPRSS3:c.208delC, p.His70ThrfsTer19

Non-syndromic genetic deafness

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