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Variant (rsID / SNP)

rs398122966

TBC1D24

rs398122966 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBC1D24. Location: chromosome 16, position 2,546,267. Clinical significance in the table: Pathogenic.

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Reference-table entries

TBC1D24Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
16:2546267
Cytoband
16p13.3
HGVS
NM_001199107.2(TBC1D24):c.118C>T (p.Arg40Cys)
Allele change
Missense_R40C

Associated conditions / phenotypes

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

Public references

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