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Variant (rsID / SNP)

rs760474458

TBC1D24

rs760474458 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBC1D24. Location: chromosome 16, position 2,546,268. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TBC1D24Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
16:2546268
Cytoband
16p13.3
HGVS
NM_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu)
Allele change
Missense_R40L

Associated conditions / phenotypes

DOORS syndrome|Autosomal dominant nonsyndromic hearing loss 65|Caused by mutation in the TBC1 domain family, member 24|Developmental and epileptic encephalopathy, 1

Public references

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