Variant (rsID / SNP)

rs193922710

rs193922710 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS2. Location: chromosome 16, position 56,536,294. 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: 16:56536294
Cytoband: 16q13
HGVS: NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter)
Allele change: Nonsense_R339X

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.