Variant (rsID / SNP)
rs121964865
rs121964865 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DDR2. Location: chromosome 1, position 162,746,015. Clinical significance in the table: Pathogenic.
Reference-table entries
DDR2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:162746015
- Cytoband
- 1q23.3
- HGVS
- NM_006182.4(DDR2):c.2138C>T (p.Thr713Ile)
- Allele change
- Missense_T713I
Associated conditions / phenotypes
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.