Variant (rsID / SNP)
rs78676079
rs78676079 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A2. Location: chromosome 5, position 149,360,630. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
SLC26A2Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:149360630
- Cytoband
- 5q32
- HGVS
- NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp)
- Allele change
- Missense_R492W
Associated conditions / phenotypes
Diastrophic dysplasia|Multiple epiphyseal dysplasia type 4|Achondrogenesis, type IB|Atelosteogenesis type II|Osteochondrodysplasia|Achondrogenesis, type IB|Atelosteogenesis type II|Diastrophic dysplasia|Multiple epiphyseal dysplasia type 4|Connective tissue disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.