Variant (rsID / SNP)

rs121908073

rs121908073 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMC1. Location: chromosome 9, position 75,309,494. Clinical significance in the table: Pathogenic.

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Reference-table entries

TMC1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:75309494
Cytoband: 9q21.13
HGVS: NM_138691.3(TMC1):c.100C>T (p.Arg34Ter)
Allele change: Nonsense_R34X

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 7|Rare genetic deafness|Hearing loss, autosomal recessive

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.