Variant (rsID / SNP)
rs104893919
rs104893919 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A2. Location: chromosome 5, position 149,357,747. Clinical significance in the table: Pathogenic.
Reference-table entries
SLC26A2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:149357747
- Cytoband
- 5q32
- HGVS
- NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter)
- Allele change
- Nonsense_R178X
Associated conditions / phenotypes
Diastrophic dysplasia|Achondrogenesis, type IB|Multiple epiphyseal dysplasia type 4|Atelosteogenesis type II|Osteochondrodysplasia|Achondrogenesis, type IB|Diastrophic dysplasia|Multiple epiphyseal dysplasia type 4|Atelosteogenesis type II|SLC26A2-Related Disorders|3MC syndrome 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.