Variant (rsID / SNP)

rs121908928

rs121908928 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COCH. Location: chromosome 14, position 31,348,040. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

COCHPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:31348040
Cytoband: 14q12
HGVS: NM_004086.3(COCH):c.263G>A (p.Gly88Glu)
Allele change: Missense_G88E

Associated conditions / phenotypes

Autosomal dominant nonsyndromic hearing loss 9

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.