CFTR c.1945T>C ;(p.S649P)

Variant ID: 7-117232166-T-C

NM_000492.3(CFTR):c.1945T>C;(p.S649P)

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:

Male Infertility Diagnosis: Improvement of Genetic Analysis Performance by the Introduction of Pre-Diagnostic Genes in a Next-Generation Sequencing Custom-Made Panel.

Frontiers In Endocrinology
Precone, Vincenza V; Cannarella, Rossella R; Paolacci, Stefano S; Busetto, Gian Maria GM; Beccari, Tommaso T; Stuppia, Liborio L; Tonini, Gerolamo G; Zulian, Alessandra A; Marceddu, Giuseppe G; Calogero, Aldo E AE; Bertelli, Matteo M
Publication Date: 2020

Variant appearance in text: CFTR: 1945T>C
PubMed Link: 33574797
Variant Present in the following documents:
  • fendo-11-605237.pdf
View BVdb publication page