Variant (rsID / SNP)
rs145499142
rs145499142 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL11A2. Location: chromosome 6, position 33,146,747. 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
- 6:33146747
- Cytoband
- 6p21.32
- HGVS
- NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp)
- Allele change
- Missense_R453W
Associated conditions / phenotypes
Fibrochondrogenesis 2|Otospondylomegaepiphyseal dysplasia, autosomal recessive|Otospondylomegaepiphyseal dysplasia, autosomal dominant|Stickler Syndrome, Dominant|Connective tissue disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.