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Results for "CFTR"

Variant Events: 33

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
CFTR     1-0382-003chr7:
117122892-117122892
CTintronicDe novo--Trost2022 G
Yuen2017 G
CFTR     2-1341-004chr7:
117189864-117189864
AGintronicDe novo--Trost2022 G
Yuen2017 G
CFTR     1-0269-003chr7:
117346366-117346366
GTintergenicDe novo--Yuen2017 G
CFTR     SP0047701chr7:
117305529-117305529
AGexonicDe novononsynonymous SNVNM_000492c.A4153Gp.R1385G17.99-Trost2022 G
CFTR     SMHC01304d000chr7:
117180323-117180323
CTexonicDe novononsynonymous SNVNM_000492c.C1039Tp.R347C22.98.241E-6Yuan2023 E
CFTR     NP170chr7:
117246851-117246851
AGintronicDe novo--Satterstrom2020 E
Trost2022 G
CFTR     1-1037-003chr7:
117229410-117229410
ATintronicDe novo--Trost2022 G
CFTR     MT_183.3chr7:
117282913-117282913
TCintronicDe novo--Trost2022 G
CFTR     1-0896-003chr7:
117131824-117131824
CGintronicDe novo--Trost2022 G
Yuen2017 G
CFTR     3-0143-000chr7:
117250656-117250656
GAexonicDe novosynonymous SNVNM_000492c.G3072Ap.V1024V--Trost2022 G
Zhou2022 GE
CFTR     mAGRE2468chr7:
117180302-117180302
AATCexonicMaternalframeshift insertionNM_000492c.1018_1019insTCp.I340fs-1.648E-5Cirnigliaro2023 G
CFTR     mAGRE2466chr7:
117180302-117180302
AATCexonicMaternalframeshift insertionNM_000492c.1018_1019insTCp.I340fs-1.648E-5Cirnigliaro2023 G
CFTR     mAGRE1818chr7:
117180302-117180302
AATCexonicMaternalframeshift insertionNM_000492c.1018_1019insTCp.I340fs-1.648E-5Cirnigliaro2023 G
CFTR     mAGRE2111chr7:
117171169-117171169
GTsplicingMaternalsplicing26.56.191E-5Cirnigliaro2023 G
CFTR     1-0294-003chr7:
117263768-117263768
CTintronicDe novo--Yuen2016 G
Yuen2017 G
CFTR     iHART2111chr7:
117171169-117171169
GTsplicingMaternalsplicing26.56.191E-5Ruzzo2019 G
CFTR     AU3053301chr7:
117233606-117233606
GTintronicDe novo--Trost2022 G
Yuen2017 G
CFTR     7-0143-003chr7:
117140651-117140651
AGintronicDe novo--Trost2022 G
Yuen2017 G
CFTR     AU2109301chr7:
117283385-117283385
CGintronicDe novo--Trost2022 G
Yuen2017 G
CFTR     G01-GEA-211-HIchr7:
117176703-117176703
AGexonicDe novononsynonymous SNVNM_000492c.A845Gp.E282G23.5-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
CFTR     74-0081chr7:
117267592-117267592
GAexonicInheritednonsynonymous SNVNM_000492c.G3485Ap.R1162Q21.92.0E-4Patowary2019 E
CFTR     MSSNG00056-003chr7:
117129149-117129149
GTintronicDe novo--Trost2022 G
CFTR     4-0062-003chr7:
117130777-117130778
AATTintronicDe novo--Trost2022 G
CFTR     2-0013-003chr7:
117128688-117128688
CTintronicDe novo--Trost2022 G
Yuen2017 G
CFTR     1-1111-003chr7:
117213579-117213579
TCintronicDe novo--Trost2022 G
CFTR     3-0409-000chr7:
117214326-117214326
CAintronicDe novo--Trost2022 G
CFTR     2-1106-004chr7:
117211370-117211370
AGintronicDe novo--Trost2022 G
CFTR     4-0075-003chr7:
117212267-117212267
GAintronicDe novo--Trost2022 G
CFTR     AU2162302 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
Yuen2017 G
Yuen2017 G
CFTR     5-1007-003chr7:
117154236-117154236
ATintronicDe novo--Trost2022 G
CFTR     1-0446-003chr7:
117190715-117190718
AGATTATGTGintronicDe novo--Trost2022 G
CFTR     MSSNG00016-003chr7:
117132738-117132738
TTTCTTGTGGintronicDe novo--Trost2022 G
CFTR     4-0094-003chr7:
117152417-117152417
CTintronicDe novo--Trost2022 G
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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