Variant (rsID / SNP)

rs144046998

rs144046998 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRAPPC9. Location: chromosome 8, position 140,922,528. 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: 8:140922528
Cytoband: 8q24.3
HGVS: NM_001160372.4(TRAPPC9):c.2827G>C (p.Asp943His)
Allele change: Missense_D934H

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.