Variant (rsID / SNP)

rs17097468

rs17097468 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COCH. Location: chromosome 14, position 31,358,897. Clinical significance in the table: Benign.

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Reference-table entries

COCHBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 14:31358897
Cytoband: 14q12
HGVS: NM_004086.3(COCH):c.1553A>G (p.Glu518Gly)
Allele change: Missense_E518G

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.