CFTR c.1375_1383del ;(p.S459_G461del)

Variant ID: 7-117188854-GCTGGATCCA-G

NM_000492.3(CFTR):c.1375_1383del;(p.S459_G461del)

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:

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: CFTR: 1371_1379del
PubMed Link: 36855133
Variant Present in the following documents:
  • 12920_2023_1454_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page


Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.

Annals Of Saudi Medicine
Banjar, Hanaa Hasan HH; Tuleimat, Lin L; El Seoudi, Abdul Aziz Agha AAA; Mogarri, Ibrahim I; Alhaider, Sami S; Nizami, Imran Yaqoob IY; AlMaghamsi, Talal T; Alkaf, Sara Andulrahman SA; Moghrabi, Nabil N
Publication Date: 2020

Variant appearance in text: CFTR: 1375_1383del
PubMed Link: 32026723
Variant Present in the following documents:
  • Main text
  • 0256-4947.2020.15.pdf
View BVdb publication page


Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology
,
Publication Date: 2015-06-26

Variant appearance in text: CFTR: 1370_1378del
PubMed Link: 26112015
Variant Present in the following documents:
  • 13059_2015_693_MOESM1_ESM.xls, sheet 1
View BVdb publication page