Variant (rsID / SNP)
rs34179337
rs34179337 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRAPPC9. Location: chromosome 8, position 141,370,186. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TRAPPC9Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:141370186
- Cytoband
- 8q24.3
- HGVS
- NM_001160372.4(TRAPPC9):c.1458C>T (p.Phe486=)
- Allele change
- Synonymous_F477F
Associated conditions / phenotypes
Intellectual Disability, Recessive|History of neurodevelopmental disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
