Variant (rsID / SNP)

rs199852092

rs199852092 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBC1D24. Location: chromosome 16, position 2,546,143. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TBC1D24Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 16:2546143
Cytoband: 16p13.3
HGVS: NM_001199107.2(TBC1D24):c.-7C>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.