Variant (rsID / SNP)
rs140413256
rs140413256 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDCCAG8. Location: chromosome 1, position 243,434,337. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SDCCAG8Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:243434337
- Cytoband
- 1q43
- HGVS
- NM_006642.5(SDCCAG8):c.278C>T (p.Pro93Leu)
- Allele change
- Silent
Associated conditions / phenotypes
Senior-Loken syndrome 7|Bardet-Biedl syndrome 16|Bardet-Biedl syndrome 16|Senior-Loken syndrome 7
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.