Variant (rsID / SNP)

rs104894949

rs104894949 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRAPPC2. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TRAPPC2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp22.2
HGVS: NM_001011658.4(TRAPPC2):c.329C>A (p.Ser110Ter)
Allele change: Nonsense_S110X

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.