Variant (rsID / SNP)
rs549625604
rs549625604 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS10. Location: chromosome 12, position 76,741,493. Clinical significance in the table: Pathogenic.
Reference-table entries
BBS10Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 12:76741493
- Cytoband
- 12q21.2
- HGVS
- NM_024685.4(BBS10):c.271dup (p.Cys91fs)
Associated conditions / phenotypes
Bardet-Biedl syndrome 10|Bardet-biedl syndrome 6/10, digenic|Bardet-Biedl syndrome|Retinitis pigmentosa|Inborn genetic diseases|Bardet-Biedl syndrome 1|Retinal dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.