Variant (rsID / SNP)

rs122460156

rs122460156 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRAPPC2. Clinical significance in the table: Pathogenic.

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Reference-table entries

TRAPPC2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp22.2
HGVS: NM_001011658.4(TRAPPC2):c.391C>T (p.Gln131Ter)
Allele change: Nonsense_Q131X

Associated conditions / phenotypes

Spondyloepiphyseal dysplasia tarda

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.