Variant (rsID / SNP)

rs104894948

rs104894948 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRAPPC2. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

TRAPPC2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xp22.2
HGVS: NM_001011658.4(TRAPPC2):c.248T>C (p.Phe83Ser)
Allele change: Missense_F83S

Associated conditions / phenotypes

Spondyloepiphyseal dysplasia tarda|Connective tissue disorder

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.