Variant (rsID / SNP)
rs751557
rs751557 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL9A3. Location: chromosome 20, position 61,463,522. Clinical significance in the table: Benign.
Reference-table entries
COL9A3Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:61463522
- Cytoband
- 20q13.33
- HGVS
- NM_001853.4(COL9A3):c.1304C>A (p.Ala435Glu)
- Allele change
- Missense_A435E
Associated conditions / phenotypes
Epiphyseal dysplasia, multiple, 3|Connective tissue disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.