Variant (rsID / SNP)
rs138043021
rs138043021 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS2. Location: chromosome 16, position 56,530,894. Clinical significance in the table: Pathogenic.
Reference-table entries
BBS2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:56530894
- Cytoband
- 16q13
- HGVS
- NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro)
- Allele change
- Missense_R632H
Associated conditions / phenotypes
Bardet-Biedl syndrome 2|Retinitis pigmentosa 74|BBS2-Related Disorders|Bardet-Biedl syndrome|Retinitis pigmentosa|Retinal dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.