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Variant (rsID / SNP)

rs121917777

BBS1

rs121917777 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS1. Location: chromosome 11, position 66,299,163. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

BBS1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:66299163
Cytoband
11q13.2
HGVS
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)
Allele change
Nonsense_E549X

Associated conditions / phenotypes

Bardet-Biedl syndrome 1|Bardet-Biedl syndrome|Retinitis pigmentosa

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.