Variant (rsID / SNP)
rs114260147
rs114260147 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A2. Location: chromosome 5, position 149,359,938. Clinical significance in the table: Uncertain significance.
Reference-table entries
SLC26A2Uncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:149359938
- Cytoband
- 5q32
- HGVS
- NM_000112.4(SLC26A2):c.782C>G (p.Ser261Cys)
- Allele change
- Missense_S261C
Associated conditions / phenotypes
Achondrogenesis, type IB|Atelosteogenesis type II|Diastrophic dysplasia|Multiple epiphyseal dysplasia type 4|Multiple epiphyseal dysplasia type 4|Diastrophic dysplasia|Osteochondrodysplasia|Atelosteogenesis type II|Achondrogenesis, type IB
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.