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Variant (rsID / SNP)

rs72768728

TBC1D24

rs72768728 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBC1D24. Location: chromosome 16, position 2,547,034. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TBC1D24Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
16:2547034
Cytoband
16p13.3
HGVS
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu)
Allele change
Missense_F295L

Associated conditions / phenotypes

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