Variant (rsID / SNP)

rs115328064

rs115328064 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS2. Location: chromosome 16, position 56,533,694. 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: 16:56533694
Cytoband: 16q13
HGVS: NM_031885.5(BBS2):c.1523A>C (p.Gln508Pro)
Allele change: Missense_Q508P

Associated conditions / phenotypes

Bardet-Biedl syndrome|Bardet-Biedl syndrome 2

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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