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Variant (rsID / SNP)

rs193922709

BBS1

rs193922709 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS1. Location: chromosome 11, position 66,287,166. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BBS1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:66287166
Cytoband
11q13.2
HGVS
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys)
Allele change
Missense_E224K

Associated conditions / phenotypes

Retinal dystrophy|Bardet-Biedl syndrome|Bardet-Biedl syndrome 1

Public references

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