CFTR c.21_53+26del

Variant ID: 7-117120169-AAAAGGCCAGCGTTGTCTCCAAACTTTTTTTCAGGTGAGAAGGTGGCCAACCGAGCTTCG-A

NM_000492.3(CFTR):c.21_53+26del

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:

The curation of genetic variants: difficulties and possible solutions.

Genomics, Proteomics & Bioinformatics
Pandey, Kapil Raj KR; Maden, Narendra N; Poudel, Barsha B; Pradhananga, Sailendra S; Sharma, Amit Kumar AK
Publication Date: 2012-12

Variant appearance in text: CFTR: 20_60del
PubMed Link: 23317699
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page