Variant (rsID / SNP)
rs200523422
rs200523422 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL11A2. Location: chromosome 6, position 33,144,827. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
COL11A2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:33144827
- Cytoband
- 6p21.32
- HGVS
- NM_080680.3(COL11A2):c.2017-5T>G
- Allele change
- Silent
Associated conditions / phenotypes
Connective tissue disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.