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IMPORTANT NOTICE:
MobiDetails' migration to the new instance is scheduled for March, 19th, morning. The current instance will first be placed on read-only mode during the switch, which should last a few hours, and which means you will be able to consult already annotated variants but not annotate new ones. A redirection to the new instance will be activated when it is ready.

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hg19 UCSC ESP6500 gnomAD v2 Clinvar search
hg38 UCSC gnomAD v4 deCAF TOPMed AllofUs RGC Mastermind
PubMatcher AlphaFold MD CFTR

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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.117627651_117627652delinsG;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:

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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)...

dbscSNV / SpliceAI / AbSplice Max results




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).