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CFTR c.1712T>C ;(p.L571S)
Variant ID: 7-117230439-T-C
NM_000492.3(
CFTR
):c.1712T>C;(p.L571S)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients.
Molecular Genetics & Genomic Medicine
Petrova, Guergana G; Yaneva, Nadezhda N; Hrbková, Jana J; Libik, Malgorzata M; Savov, Alexey A; Macek, Milan M
Publication Date: 2019-08
Variant appearance in text: CFTR: L571S
PubMed Link:
31245908
Variant Present in the following documents:
Main text
MGG3-7-e696.pdf
View BVdb publication page
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: CFTR: L571S
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page
A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.
Molecular Medicine (Cambridge, Mass.)
Lucarelli, Marco M; Bruno, Sabina Maria SM; Pierandrei, Silvia S; Ferraguti, Giampiero G; Stamato, Antonella A; Narzi, Fabiana F; Amato, Annalisa A; Cimino, Giuseppe G; Bertasi, Serenella S; Quattrucci, Serena S; Strom, Roberto R
Publication Date: 2015-04-21
Variant appearance in text: CFTR: 1712T>C; L571S
PubMed Link:
25910067
Variant Present in the following documents:
Main text
View BVdb publication page