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Variant (rsID / SNP)

rs201872547

BBS1

rs201872547 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS1. Location: chromosome 11, position 66,291,279. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

BBS1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
11:66291279
Cytoband
11q13.2
HGVS
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile)
Allele change
Missense_V346I

Associated conditions / phenotypes

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.