CFTR c.3469-20T>C

Variant ID: 7-117267556-T-C

NM_000492.3(CFTR):c.3469-20T>C

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature
,
Publication Date: 2019-12

Variant appearance in text: CFTR: 3469-20T>C; rs373002889
PubMed Link: 31802016
Variant Present in the following documents:
  • 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
View BVdb publication page



Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Tarailo-Graovac, Maja M; Zhu, Jing Yun Alice JYA; Matthews, Allison A; van Karnebeek, Clara D M CDM; Wasserman, Wyeth W WW
Publication Date: 2017-12

Variant appearance in text: rs373002889
PubMed Link: 28471432
Variant Present in the following documents:
  • Main text
  • gim201750a.pdf
  • gim201750x2.xlsx, sheet 2
View BVdb publication page