CFTR c.1407G>C ;(p.M469I)

Variant ID: 7-117199532-G-C

NM_000492.3(CFTR):c.1407G>C;(p.M469I)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-05-10

Variant appearance in text: CFTR: M469I
PubMed Link: 35538087
Variant Present in the following documents:
  • 41467_2022_30446_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-02-23

Variant appearance in text: CFTR: M469I
PubMed Link: 35197475
Variant Present in the following documents:
  • 41467_2022_28566_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Genetics and molecular biology of male infertility among Iranian population: an update.

American Journal Of Translational Research
Mojarrad, Majid M; Saburi, Ehsan E; Golshan, Alireza A; Moghbeli, Meysam M
Publication Date: 2021

Variant appearance in text: CFTR: M469I
PubMed Link: 34306325
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: CFTR: M469I
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Basic and clinical genetic studies on male infertility in Iran during 2000-2016: A review.

International Journal Of Reproductive Biomedicine
Moghbelinejad, Sahar S; Mozdarani, Hossein H; Ghoraeian, Pegah P; Asadi, Reihaneh R
Publication Date: 2018-03

Variant appearance in text: CFTR: M469I
PubMed Link: 29766145
Variant Present in the following documents:
  • Main text
  • ijrb-16-131.pdf
View BVdb publication page



Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.

Andrology
de Souza, D A S DAS; Faucz, F R FR; Pereira-Ferrari, L L; Sotomaior, V S VS; Raskin, S S
Publication Date: 2018-01

Variant appearance in text: CFTR: M469I
PubMed Link: 29216686
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exon 10 CFTR gene mutation in male infertility.

Iranian Journal Of Reproductive Medicine
Hojati, Zohreh Z; Heidari, Somaye S; Motovali-Bashi, Majid M
Publication Date: 2012-07

Variant appearance in text: CFTR: M469I
PubMed Link: 25246892
Variant Present in the following documents:
  • Main text
  • ijrm-10-315.pdf
View BVdb publication page