CFTR c.844G>C ;(p.E282Q)

Variant ID: 7-117176702-G-C

NM_000492.3(CFTR):c.844G>C;(p.E282Q)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

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: 844G>C
PubMed Link: 34145097
Variant Present in the following documents:
  • Main text
  • IJMR-152-575.pdf
View BVdb publication page