Variant (rsID / SNP)

rs201196733

rs201196733 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS2. Location: chromosome 16, position 56,530,925. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

BBS2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:56530925
Cytoband: 16q13
HGVS: NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter)
Allele change: Nonsense_R622X

Associated conditions / phenotypes

Bardet-Biedl syndrome 2|Bardet-Biedl syndrome

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.