Variant (rsID / SNP)
rs1230345
rs1230345 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCN6. Location: chromosome 6, position 112,382,313. Clinical significance in the table: Benign.
Reference-table entries
CCN6Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:112382313
- Cytoband
- 6q21
- HGVS
- NM_198239.2(CCN6):c.168G>T (p.Gln56His)
- Allele change
- Missense_Q56H
Associated conditions / phenotypes
Progressive pseudorheumatoid dysplasia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.