Variant (rsID / SNP)
rs200963473
rs200963473 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRAPPC9. Location: chromosome 8, position 140,744,290. Clinical significance in the table: Uncertain significance.
Reference-table entries
TRAPPC9Uncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:140744290
- Cytoband
- 8q24.3
- HGVS
- NM_001160372.4(TRAPPC9):c.3211G>A (p.Gly1071Ser)
- Allele change
- Missense_G1062S
Associated conditions / phenotypes
History of neurodevelopmental disorder|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.