Variant (rsID / SNP)

rs147337485

rs147337485 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCN6. Location: chromosome 6, position 112,382,393. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CCN6Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:112382393
Cytoband: 6q21
HGVS: NM_198239.2(CCN6):c.248G>A (p.Gly83Glu)
Allele change: Missense_G83E

Associated conditions / phenotypes

Progressive pseudorheumatoid dysplasia

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.