Variant (rsID / SNP)
rs104893924
rs104893924 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A2. Location: chromosome 5, position 149,361,113. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
SLC26A2Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:149361113
- Cytoband
- 5q32
- HGVS
- NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)
- Allele change
- Missense_C653S
Associated conditions / phenotypes
Multiple epiphyseal dysplasia type 4|Diastrophic dysplasia|Achondrogenesis, type IB|Atelosteogenesis type II|Multiple epiphyseal dysplasia type 4|Atelosteogenesis type II|Achondrogenesis, type IB|Diastrophic dysplasia|Osteochondrodysplasia|3MC syndrome 2|SLC26A2-Related Disorders|Connective tissue disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.