Variant (rsID / SNP)

rs76657474

rs76657474 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRTOMT, ANAPC15. Location: chromosome 11, position 71,819,007. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LRTOMTConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 11:71819007
Cytoband: 11q13.4
HGVS: NM_001393500.2(TOMT):c.298G>C (p.Ala100Pro)
Allele change: Missense_A133P

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 63

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.