CFTR c.400A>C ;(p.R134=)

Variant ID: 7-117171079-A-C

NM_000492.3(CFTR):c.400A>C;(p.R134=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications
Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM
Publication Date: 2018-09-10

Variant appearance in text: CFTR/MRP: R134R
PubMed Link: 30202019
Variant Present in the following documents:
  • 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



UBE2B mRNA alterations are associated with severe oligozoospermia in infertile men.

Molecular Human Reproduction
Yatsenko, Alexander N AN; Georgiadis, Andrew P AP; Murthy, Lata J LJ; Lamb, Dolores J DJ; Matzuk, Martin M MM
Publication Date: 2013-06

Variant appearance in text: CFTR: R134R
PubMed Link: 23378580
Variant Present in the following documents:
  • Main text
View BVdb publication page