Variant (rsID / SNP)

rs151001642

rs151001642 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMC1. Location: chromosome 9, position 75,404,174. 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: 9:75404174
Cytoband: 9q21.13
HGVS: NM_138691.3(TMC1):c.1165C>T (p.Arg389Ter)
Allele change: Nonsense_R389X

Associated conditions / phenotypes

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.