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Gene profile

BBS4

HGNC:969 · SaudiVarKB evidence summary derived from retained literature mentions.

1Gene mentions
1Publications
2Linked variants
2Associated phenotypes

Associated phenotypes

Co-mentioned in BBS4 publications
PhenotypeIdentifierArticlesMentions
Leber congenital amaurosis11
Bardet-Biedl syndrome11

Linked variants

Variants normalized to BBS4
VariantHGVS / rsIDArticlesMentions
c.253G>Cc.253G>C11
p.E85Qp.E85Q11

Population context

Reported in the same publications
Country / regionGroupCohortArticles
Saudi Arabia1

Supporting publications

1 records
  1. 2011Exome capture sequencing identifies a novel mutation in BBS4.Molecular visionPubMed ↗