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Variant (rsID / SNP)

rs28938175

COCH

rs28938175 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COCH. Location: chromosome 14, position 31,346,846. Clinical significance in the table: Pathogenic.

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Reference-table entries

COCHPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
14:31346846
Cytoband
14q12
HGVS
NM_004086.3(COCH):c.151C>T (p.Pro51Ser)
Allele change
Missense_P51S

Associated conditions / phenotypes

Autosomal dominant nonsyndromic hearing loss 9|Nonsyndromic genetic hearing loss|Rare genetic deafness|Hearing impairment

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.