X

IMPORTANT NOTICE:
MobiDetails home will soon change. The new URL will be displayed here on each page and on our mastodon account as soon as possible. Stay tuned!

X

X

This variant may be annotated on the current canonical isoform (NM_000492.4) using the following expression,
directly in the search engine at the bottom of the page or by using the blue button below:
NC_000007.14:g.117664795_117664797delinsAA;CFTR

Try annotation on the canonical NM_000492.4


Nomenclatures



Mutalyzer
VariantValidator
HGVS website

Positions



requesting LitVar2 for Pubmed requires a dbSNP identifier
Export to DEFGEN (hg19)
Export to DEFGEN (hg38)

Population Frequencies and Databases




Overall predictions




Splicing predictions

Exonic context

The exonic splicing context of the variant including natural splice sites scores is summarized in the graph below:

Your web browser does not understand HTML5. In order to display the small graph, you must use a more recent one.
MaxEntScan results

MaxEntScan scores are presented in the two following tables. Selected scores have:

  • a |variation| > 15% and
  • a raw score for mutant or wild-type of at least 3
The upper sequence shows the variation site in red, and the lower sequence the putative splice site considered by MaxEntScan (putative introns are shown as lower case and exons as upper case).






SPiP results

SPiP results and predictions:

MobiDetails is running SPiPv2 (may last up to 20s)...





SpliceAI-visual results

MobiDetails is running spliceai to bring you SpliceAI-visual...



Classification History



To modify the classification history, you must be logged in (you might want to create an account before).

* We added an additional 'risk factor' class to the 5 ACMG classes in order to describe low penetrance risk factor variants. Currently, these variants are not sent to the LOVD Global Variome instance.




Administrative information



To contact the creation user, you must be logged in (you might want to create an account before).