BBS7 c.1592_1597del ;(p.V531_P532del)

Variant ID: 4-122754464-TCTGGAA-T

NM_176824.2(BBS7):c.1592_1597del;(p.V531_P532del)

This variant was identified in 2 publications

View GRCh38 version.



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

Publications:

Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.

Bmc Medical Genomics
Cannon, S S; Williams, M M; Gunning, A C AC; Wright, C F CF
Publication Date: 2023-02-28

Variant appearance in text: BBS7: 1591_1596del
PubMed Link: 36855133
Variant Present in the following documents:
  • 12920_2023_1454_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page


Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.

Molecular Vision
Ullah, Asmat A; Umair, Muhammad M; Yousaf, Maryam M; Khan, Sher Alam SA; Nazim-Ud-Din, Muhammad M; Shah, Khadim K; Ahmad, Farooq F; Azeem, Zahid Z; Ali, Ghazanfar G; Alhaddad, Bader B; Rafique, Afzal A; Jan, Abid A; Haack, Tobias B TB; Strom, Tim M TM; Meitinger, Thomas T; Ghous, Tahseen T; Ahmad, Wasim W
Publication Date: 2017

Variant appearance in text: BBS7: 1592_1597delTTCCAG; Val531_Pro532del
PubMed Link: 28761321
Variant Present in the following documents:
  • Main text
  • mv-v23-482.pdf
View BVdb publication page