Variant (rsID / SNP)
rs747538224
rs747538224 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBC1D24. Location: chromosome 16, position 2,546,994. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TBC1D24Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:2546994
- Cytoband
- 16p13.3
- HGVS
- NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg)
- Allele change
- Missense_P282R
Associated conditions / phenotypes
Developmental and epileptic encephalopathy, 1|Autosomal dominant nonsyndromic hearing loss 65|Caused by mutation in the TBC1 domain family, member 24|Inborn genetic diseases|developmental delay with seizures|DOORS syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.