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Variant (rsID / SNP)

rs147127279

TRAPPC9

rs147127279 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRAPPC9. Location: chromosome 8, position 140,743,337. 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
8:140743337
Cytoband
8q24.3
HGVS
NM_001160372.4(TRAPPC9):c.3414T>G (p.Ser1138Arg)
Allele change
Missense_S1129R

Associated conditions / phenotypes

Intellectual Disability, Recessive|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.