Variant (rsID / SNP)
rs386833492
rs386833492 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A2. Location: chromosome 5, position 149,340,544. Clinical significance in the table: Pathogenic.
Reference-table entries
SLC26A2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:149340544
- Cytoband
- 5q32
- HGVS
- NM_000112.4(SLC26A2):c.-26+2T>C
- Allele change
- Silent
Associated conditions / phenotypes
Diastrophic dysplasia|Multiple epiphyseal dysplasia type 4|Achondrogenesis, type IB|Diastrophic dysplasia|Multiple epiphyseal dysplasia type 4|Atelosteogenesis type II|Osteochondrodysplasia|SLC26A2-Related Disorders|Atelosteogenesis type II|3MC syndrome 2|Achondrogenesis, type IB
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.