Variant (rsID / SNP)

rs587777824

rs587777824 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS2. Location: chromosome 16, position 56,536,585. Clinical significance in the table: Pathogenic.

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Reference-table entries

BBS2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 16:56536585
Cytoband: 16q13
HGVS: NM_031885.5(BBS2):c.940del (p.Ile314fs)

Associated conditions / phenotypes

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.