Variant (rsID / SNP)

rs1135527

rs1135527 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBC1D24. Location: chromosome 16, position 2,555,438. Clinical significance in the table: Benign.

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Reference-table entries

TBC1D24Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:2555438
Cytoband: 16p13.3
HGVS: NM_001199107.2(TBC1D24):c.*4479C>T
Allele change: Silent

Associated conditions / phenotypes

Familial infantile myoclonic epilepsy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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