rs10266655

This variant is located in the GSDME gene.

ClinVar annotation

Benign★★★
2 submitters

Autosomal dominant nonsyndromic hearing loss 5; not provided

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About GSDME

Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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