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Variant (rsID / SNP)

rs749163517

TBC1D24

rs749163517 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBC1D24. Location: chromosome 16, position 2,548,380. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TBC1D24Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:2548380
Cytoband
16p13.3
HGVS
NM_001199107.2(TBC1D24):c.1125C>T (p.His375=)
Allele change
Synonymous_H375H

Associated conditions / phenotypes

Autosomal dominant nonsyndromic hearing loss 65|Caused by mutation in the TBC1 domain family, member 24|Developmental and epileptic encephalopathy, 1|Familial infantile myoclonic epilepsy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.