Variant (rsID / SNP)
rs145238250
rs145238250 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCTD7. Location: chromosome 7, position 66,103,309. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
KCTD7Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:66103309
- Cytoband
- 7q11.21
- HGVS
- NM_153033.5(KCTD7):c.384G>A (p.Glu128=)
- Allele change
- Synonymous_E128E
Associated conditions / phenotypes
Progressive myoclonic epilepsy type 3|Seizure
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.