BBS2 c.2041_2049del ;(p.A682_R684del)

Variant ID: 16-56519512-GACCTGCTCT-G

NM_031885.3(BBS2):c.2041_2049del;(p.A682_R684del)

This variant was identified in 3 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

The genetic landscape of inherited retinal dystrophies in Arabs.

Bmc Medical Genomics
Jaffal, Lama L; Joumaa, Hawraa H; Noureldine, Jinane J; Banjak, Malak M; Ibrahim, Mariam M; Mrad, Zamzam Z; Salami, Ali A; Shamieh, Said El SE
Publication Date: 2023-05-01

Variant appearance in text: BBS: 2041_2049del
PubMed Link: 37127645
Variant Present in the following documents:
  • 12920_2023_1518_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page


Characterizing the morbid genome of ciliopathies.

Genome Biology
Shaheen, Ranad R; Szymanska, Katarzyna K; Basu, Basudha B; Patel, Nisha N; Ewida, Nour N; Faqeih, Eissa E; Al Hashem, Amal A; Derar, Nada N; Alsharif, Hadeel H; Aldahmesh, Mohammed A MA; Alazami, Anas M AM; Hashem, Mais M; Ibrahim, Niema N; Abdulwahab, Firdous M FM; Sonbul, Rawda R; Alkuraya, Hisham H; Alnemer, Maha M; Al Tala, Saeed S; Al-Husain, Muneera M; Morsy, Heba H; Seidahmed, Mohammed Zain MZ; Meriki, Neama N; Al-Owain, Mohammed M; AlShahwan, Saad S; Tabarki, Brahim B; Salih, Mustafa A MA; , ; Faquih, Tariq T; El-Kalioby, Mohamed M; Ueffing, Marius M; Boldt, Karsten K; Logan, Clare V CV; Parry, David A DA; Al Tassan, Nada N; Monies, Dorota D; Megarbane, Andre A; Abouelhoda, Mohamed M; Halees, Anason A; Johnson, Colin A CA; Alkuraya, Fowzan S FS
Publication Date: 2016-11-28

Variant appearance in text: BBS: 2041_2049del
PubMed Link: 27894351
Variant Present in the following documents:
  • 13059_2016_1099_MOESM6_ESM.xlsx, sheet 1
  • 13059_2016_1099_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page


IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.

Human Molecular Genetics
Aldahmesh, Mohammed A MA; Li, Yuanyuan Y; Alhashem, Amal A; Anazi, Shams S; Alkuraya, Hisham H; Hashem, Mais M; Awaji, Ali A AA; Sogaty, Sameera S; Alkharashi, Abdullah A; Alzahrani, Saeed S; Al Hazzaa, Selwa A SA; Xiong, Yong Y; Kong, Shanshan S; Sun, Zhaoxia Z; Alkuraya, Fowzan S FS
Publication Date: 2014-06-15

Variant appearance in text: BBS: 2041_2049del
PubMed Link: 24488770
Variant Present in the following documents:
  • Main text
View BVdb publication page