Variant (rsID / SNP)
rs104893915
rs104893915 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A2. Location: chromosome 5, position 149,359,991. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:149359991
- Cytoband
- 5q32
- HGVS
- NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)
- Allele change
- Missense_R279W
Associated conditions / phenotypes
Atelosteogenesis type II|Diastrophic dysplasia|Multiple epiphyseal dysplasia type 4|SLC26A2-Related Disorders|Osteochondrodysplasia|Inborn genetic diseases|Multiple epiphyseal dysplasia type 4|Atelosteogenesis type II|Achondrogenesis, type IB|Diastrophic dysplasia|Achondrogenesis, type IB|3MC syndrome 2|Connective tissue disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.