Variant Results

or

or

Results for "CFTR"

Variant Events: 15

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

1-0382-003

chr7:
117122892-117122892

C

T

intronic

De novo

-

-

Yuen2017 G

CFTR

2-1341-004

chr7:
117189864-117189864

A

G

intronic

De novo

-

-

Yuen2017 G

CFTR

1-0269-003

chr7:
117346366-117346366

G

T

intergenic

De novo

-

-

Yuen2017 G

CFTR

7-0143-003

chr7:
117140651-117140651

A

G

intronic

De novo

-

-

Yuen2017 G

CFTR

SMHC01304d000

chr7:
117180323-117180323

C

T

exonic

De novo

nonsynonymous SNV

NM_000492

c.C1039T

p.R347C

22.9

Yuan2023 E

CFTR

NP170

chr7:
117246851-117246851

A

G

intronic

De novo

-

-

Satterstrom2020 E

CFTR

1-0896-003

chr7:
117131824-117131824

C

G

intronic

De novo

-

-

Yuen2017 G

CFTR

AU2109301

chr7:
117283385-117283385

C

G

intronic

De novo

-

-

Yuen2017 G

CFTR

G01-GEA-211-HI

chr7:
117176703-117176703

A

G

exonic

De novo

nonsynonymous SNV

NM_000492

c.A845G

p.E282G

23.5

-

Fu2022 E
Satterstrom2020 E

CFTR

1-0294-003

chr7:
117263768-117263768

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

CFTR

74-0081

chr7:
117267592-117267592

G

A

exonic

Inherited

nonsynonymous SNV

NM_000492

c.G3485A

p.R1162Q

21.9

Patowary2019 E

CFTR

iHART2111

chr7:
117171169-117171169

G

T

splicing

Maternal

splicing

26.5

Ruzzo2019 G

CFTR

2-0013-003

chr7:
117128688-117128688

C

T

intronic

De novo

-

-

Yuen2017 G

CFTR

AU2162302

Complex Event; expand row to view variants

De novo

-

-

Yuen2017 G
Yuen2017 G

CFTR

AU3053301

chr7:
117233606-117233606

G

T

intronic

De novo

-

-

Yuen2017 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 notes	View
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