CFTR c.2232G>C ;(p.Q744H)

Variant ID: 7-117232453-G-C

NM_000492.3(CFTR):c.2232G>C;(p.Q744H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Spatiotemporal assessment of immunogenomic heterogeneity in multiple myeloma.

Blood Advances
Merz, Maximilian M; Hu, Qiang Q; Merz, Almuth Maria Anni AMA; Wang, Jie J; Hutson, Nicholas N; Rondeau, Cherie C; Celotto, Kimberly K; Belal, Ahmed A; Alberico, Ronald R; Block, AnneMarie A; Mohammadpour, Hemn H; Wallace, Paul K PK; Tario, Joseph D JD; Luce, Jesse J; Glenn, Sean T ST; Singh, Prashant K PK; Samur, Mehmet Kemal MK; Munshi, Nikhil C NC; Liu, Song S; McCarthy, Philip L PL; Wei, Lei L; Hillengass, Jens J
Publication Date: 2022-07-22

Variant appearance in text: CFTR: Q744H
PubMed Link: 35868022
Variant Present in the following documents:
  • BLOODA_ADV-2022-007457-mmc2.xlsx, sheet 1
View BVdb publication page



Deciphering spatial genomic heterogeneity at a single cell resolution in multiple myeloma.

Nature Communications
Merz, Maximilian M; Merz, Almuth Maria Anni AMA; Wang, Jie J; Wei, Lei L; Hu, Qiang Q; Hutson, Nicholas N; Rondeau, Cherie C; Celotto, Kimberly K; Belal, Ahmed A; Alberico, Ronald R; Block, AnneMarie W AW; Mohammadpour, Hemn H; Wallace, Paul K PK; Tario, Joseph J; Luce, Jesse J; Glenn, Sean T ST; Singh, Prashant P; Herr, Megan M MM; Hahn, Theresa T; Samur, Mehmet M; Munshi, Nikhil N; Liu, Song S; McCarthy, Philip L PL; Hillengass, Jens J
Publication Date: 2022-02-10

Variant appearance in text: CFTR: Q744H
PubMed Link: 35145077
Variant Present in the following documents:
  • 41467_2022_28266_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page