Variant (rsID / SNP)

rs121908901

rs121908901 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCN6. Location: chromosome 6, position 112,382,301. Clinical significance in the table: Pathogenic.

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Reference-table entries

CCN6Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:112382301
Cytoband: 6q21
HGVS: NM_198239.2(CCN6):c.156C>A (p.Cys52Ter)
Allele change: Nonsense_C52X

Associated conditions / phenotypes

Progressive pseudorheumatoid dysplasia|See cases

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.