Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs117033008

BBS2

rs117033008 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS2. Location: chromosome 16, position 56,533,795. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

BBS2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:56533795
Cytoband
16q13
HGVS
NM_031885.5(BBS2):c.1422G>A (p.Ser474=)
Allele change
Synonymous_S474S

Associated conditions / phenotypes

Bardet-Biedl syndrome|Bardet-Biedl syndrome 1|Bardet-Biedl syndrome 2

Public references

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