Variant (rsID / SNP)
rs111442398
rs111442398 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS7. Location: chromosome 4, position 122,765,152. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
BBS7Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:122765152
- Cytoband
- 4q27
- HGVS
- NM_176824.3(BBS7):c.1235A>G (p.Asp412Gly)
- Allele change
- Missense_D412G
Associated conditions / phenotypes
Bardet-Biedl syndrome|Bardet-Biedl syndrome 7
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.