Variant (rsID / SNP)

rs143778652

rs143778652 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRAPPC9. Location: chromosome 8, position 141,407,834. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TRAPPC9Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 8:141407834
Cytoband: 8q24.3
HGVS: NM_001160372.4(TRAPPC9):c.1019C>T (p.Ala340Val)
Allele change: Missense_A331V

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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