Variant (rsID / SNP)
rs200324356
rs200324356 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCNF, TBC1D24. Location: chromosome 16, position 2,546,790. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CCNFConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:2546790
- Cytoband
- 16p13.3
- HGVS
- NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His)
- Allele change
- Missense_R214H
Associated conditions / phenotypes
Developmental and epileptic encephalopathy, 1|Seizure|Autosomal recessive nonsyndromic hearing loss 86|Caused by mutation in the TBC1 domain family, member 24|Developmental and epileptic encephalopathy, 1|Autosomal dominant nonsyndromic hearing loss 65|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.