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Variant (rsID / SNP)

rs148976893

TRAPPC9

rs148976893 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRAPPC9. Location: chromosome 8, position 141,381,250. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TRAPPC9Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:141381250
Cytoband
8q24.3
HGVS
NM_001160372.4(TRAPPC9):c.1164C>T (p.Tyr388=)
Allele change
Synonymous_Y379Y

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.