Variant (rsID / SNP)

rs121908072

rs121908072 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMC1. Location: chromosome 9, position 75,431,077. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TMC1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:75431077
Cytoband: 9q21.13
HGVS: NM_138691.3(TMC1):c.1714G>A (p.Asp572Asn)
Allele change: Missense_D572N

Associated conditions / phenotypes

Autosomal dominant nonsyndromic hearing loss 36|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.