Variant (rsID / SNP)
rs141430703
rs141430703 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL11A2. Location: chromosome 6, position 33,154,514. 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
- 6:33154514
- Cytoband
- 6p21.32
- HGVS
- NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp)
- Allele change
- Missense_G230W
Associated conditions / phenotypes
Otospondylomegaepiphyseal dysplasia, autosomal recessive|Stickler Syndrome, Dominant|Otospondylomegaepiphyseal dysplasia, autosomal dominant|Fibrochondrogenesis 2|Autosomal recessive nonsyndromic hearing loss 53|Autosomal dominant nonsyndromic hearing loss 13|Connective tissue disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.