Variant (rsID / SNP)

rs397516626

rs397516626 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRTOMT, ANAPC15. Location: chromosome 11, position 71,817,120. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

LRTOMTConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 11:71817120
Cytoband: 11q13.4
HGVS: NM_001393500.2(TOMT):c.123A>G (p.Ser41=)
Allele change: Synonymous_S74S

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.