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Variant (rsID / SNP)

rs41280892

BBS2

rs41280892 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS2. Location: chromosome 16, position 56,536,740. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BBS2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:56536740
Cytoband
16q13
HGVS
NM_031885.5(BBS2):c.805-20A>G
Allele change
Silent

Associated conditions / phenotypes

Bardet-Biedl syndrome 1|Bardet-Biedl syndrome

Public references

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