Variant (rsID / SNP)
rs104893918
rs104893918 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A2. Location: chromosome 5, position 149,361,300. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SLC26A2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:149361300
- Cytoband
- 5q32
- HGVS
- NM_000112.4(SLC26A2):c.2144C>T (p.Ala715Val)
- Allele change
- Missense_A715V
Associated conditions / phenotypes
Atelosteogenesis type II|Multiple epiphyseal dysplasia type 4|Atelosteogenesis type II|Diastrophic dysplasia|Multiple epiphyseal dysplasia type 4|Achondrogenesis, type IB
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.