CFTR c.53+2T>G

Variant ID: 7-117120203-T-G

NM_000492.3(CFTR):c.53+2T>G

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Cystic fibrosis transmembrane conductance regulator-related male infertility: Relevance of genetic testing & counselling in Indian population.

The Indian Journal Of Medical Research
Gaikwad, Avinash A; Khan, Shagufta S; Kadam, Seema S; Shah, Rupin R; Kulkarni, Vijay V; Kumaraswamy, Rangaswamy R; Kadam, Kaushiki K; Dighe, Vikas V; Gajbhiye, Rahul R
Publication Date: 2020-12

Variant appearance in text: CFTR: 53+2T>G
PubMed Link: 34145097
Variant Present in the following documents:
  • Main text
  • IJMR-152-575.pdf
View BVdb publication page



A Non-Invasive Droplet Digital PCR (ddPCR) Assay to Detect Paternal CFTR Mutations in the Cell-Free Fetal DNA (cffDNA) of Three Pregnancies at Risk of Cystic Fibrosis via Compound Heterozygosity.

Plos One
Debrand, Emmanuel E; Lykoudi, Alexandra A; Bradshaw, Elizabeth E; Allen, Stephanie K SK
Publication Date: 2015

Variant appearance in text: CFTR: 53+2T>G
PubMed Link: 26561302
Variant Present in the following documents:
  • Main text
  • pone.0142729.pdf
View BVdb publication page