Variant (rsID / SNP)

rs117632905

rs117632905 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRAPPC9. Location: chromosome 8, position 141,370,237. 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: 8:141370237
Cytoband: 8q24.3
HGVS: NM_001160372.4(TRAPPC9):c.1407C>T (p.Tyr469=)
Allele change: Synonymous_Y460Y

Associated conditions / phenotypes

Intellectual Disability, Recessive

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.