Variant (rsID / SNP)

rs545947177

rs545947177 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRTOMT, ANAPC15. Location: chromosome 11, position 71,817,260. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

LRTOMTLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:71817260
Cytoband: 11q13.4
HGVS: NM_001393500.2(TOMT):c.259+4A>C
Allele change: Silent

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 63|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.