Variant (rsID / SNP)
rs121908179
rs121908179 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS2. Location: chromosome 16, position 56,548,399. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
BBS2Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:56548399
- Cytoband
- 16q13
- HGVS
- NM_031885.5(BBS2):c.311A>C (p.Asp104Ala)
- Allele change
- Missense_D104A
Associated conditions / phenotypes
Bardet-biedl syndrome 1/2, digenic|Retinitis pigmentosa 74|Bardet-Biedl syndrome|Bardet-Biedl syndrome 2|Bardet-Biedl syndrome 2|Retinitis pigmentosa 74|Retinitis pigmentosa
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.