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Variant (rsID / SNP)

rs121908175

BBS2

rs121908175 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS2. Location: chromosome 16, position 56,553,703. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

BBS2Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
16:56553703
Cytoband
16q13
HGVS
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter)
Allele change
Nonsense_Y24X

Associated conditions / phenotypes

Bardet-biedl syndrome 2/6, digenic|Bardet-Biedl syndrome 2|Bardet-Biedl syndrome|Bardet-Biedl syndrome 2|Retinitis pigmentosa 74|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.