Variant (rsID / SNP)
rs587780486
rs587780486 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRAPPC9. Location: chromosome 8, position 141,461,106. Clinical significance in the table: Pathogenic.
Reference-table entries
TRAPPC9Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:141461106
- Cytoband
- 8q24.3
- HGVS
- NM_001160372.4(TRAPPC9):c.367G>T (p.Glu123Ter)
- Allele change
- Nonsense_E123X
Associated conditions / phenotypes
Intellectual disability, autosomal recessive 13
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.