STRC Q1353X

(STRC Gln1353Stop)

Reported by ClinVar to cause deafness in a dominant manner (https://www.ncbi.nlm.nih.gov/clinvar/variation/236066/). In ClinVar this variant is reported as a “pathogenic” cause of this disease by a single source, the Laboratory of Prof. Karen Avraham,Tel Aviv University. This submission does not reference any published literature. This variant is rare according to ExAC data, potentially consistent with the reported disease-causing hypothesis (http://exac.broadinstitute.org/variant/15-43896918-G-A).

Variant evidence
Computational	-

Functional	-

Case/Control		Evidence unknown.
		Evidence unknown.
Familial		Evidence unknown.
		Evidence unknown.

Clinical importance
Severity	3

Treatability	1

Penetrance	5

Moderate clinical importance, Uncertain pathogenic

(The "moderate clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)

dominant

Allele frequency

None available.

Publications

Genomes

Other external references

GeneTests

GeneTests records for the STRC gene
Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive
CATSPER-Related Male Infertility
Deafness-Infertility Syndrome
DFNB16 Nonsyndromic Hearing Loss and Deafness
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/STRC

STRC Q1353X - GET-Evidence

STRC Q1353X

Allele frequency

Publications

Genomes

Other external references

Other in silico analyses

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