Variant (rsID / SNP)
rs372150992
rs372150992 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCTD7. Location: chromosome 7, position 66,104,036. 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
- 7:66104036
- Cytoband
- 7q11.21
- HGVS
- NM_153033.5(KCTD7):c.687T>C (p.Asp229=)
- Allele change
- Synonymous_D229D
Associated conditions / phenotypes
Seizure|Progressive myoclonic epilepsy type 3
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.