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Variant (rsID / SNP)

rs184389316

TBC1D24

rs184389316 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBC1D24. Location: chromosome 16, position 2,548,257. 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
16:2548257
Cytoband
16p13.3
HGVS
NM_001199107.2(TBC1D24):c.1002C>T (p.Ala334=)
Allele change
Synonymous_A334A

Associated conditions / phenotypes

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

Public references

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