Variant (rsID / SNP)

rs121908932

rs121908932 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COCH. Location: chromosome 14, position 31,358,969. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

COCHPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:31358969
Cytoband: 14q12
HGVS: NM_004086.3(COCH):c.1625G>T (p.Cys542Phe)
Allele change: Missense_C542F

Associated conditions / phenotypes

Autosomal dominant nonsyndromic hearing loss 9|Rare genetic deafness

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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