Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs139631202

TRAPPC9

rs139631202 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRAPPC9. Location: chromosome 8, position 141,461,210. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

TRAPPC9Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:141461210
Cytoband
8q24.3
HGVS
NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu)
Allele change
Missense_S88L

Associated conditions / phenotypes

Intellectual Disability, Recessive|Intellectual disability, autosomal recessive 13|History of neurodevelopmental disorder|Intellectual disability

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.