Variant (rsID / SNP)
rs386833497
rs386833497 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A2. Location: chromosome 5, position 149,360,806. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SLC26A2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- Deletion
- Chromosome / position
- 5:149360806
- Cytoband
- 5q32
- HGVS
- NM_000112.4(SLC26A2):c.1650del (p.Ser551fs)
Associated conditions / phenotypes
Diastrophic dysplasia|Multiple epiphyseal dysplasia type 4|SLC26A2-Related Disorders|Achondrogenesis, type IB|Atelosteogenesis type II|Diastrophic dysplasia|Multiple epiphyseal dysplasia type 4|Achondrogenesis, type IB
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.