Variant (rsID / SNP)

rs138527651

rs138527651 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMC1. Location: chromosome 9, position 75,435,933. 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: 9:75435933
Cytoband: 9q21.13
HGVS: NM_138691.3(TMC1):c.1939T>C (p.Ser647Pro)
Allele change: Missense_S647P

Associated conditions / phenotypes

Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 7

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.