CFTR c.16C>G ;(p.L6V)

Variant ID: 7-117120164-C-G

NM_000492.3(CFTR):c.16C>G;(p.L6V)

This variant was identified in 1 publication

View GRCh38 version.



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

Publications:

Characterization of Ancestral Origin of Cystic Fibrosis of Patients with New Reported Mutations in CFTR.

Biomed Research International
Paz-Y-Miño, César C; Zambrano, Ana Karina AK; Ruiz-Cabezas, Juan Carlos JC; Armendáriz-Castillo, Isaac I; García-Cárdenas, Jennyfer M JM; Guerrero, Santiago S; López-Cortés, Andrés A; Pérez-Villa, Andy A; Guevara-Ramírez, Patricia P; Yumiceba, Verónica V; Leone, Paola E PE
Publication Date: 2020

Variant appearance in text: CFTR: 16C>G; Leu6Val
PubMed Link: 32596391
Variant Present in the following documents:
  • Main text
  • BMRI2020-9074760.pdf
View BVdb publication page