Variant Results

or

Results for "COL7A1"

Variant Events: 22

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

COL7A1

3-0207-000

chr3:
48632204-48632204

C

T

intronic

De novo

-

Trost2022 G

COL7A1

JASD_Fam0194

chr3:
48611123-48611123

C

T

exonic

De novo

synonymous SNV

NM_000094

c.G6573A

p.P2191P

-

1.775E-5

Takata2018 E

COL7A1

Disecmas_237P

chr3:
48626359-48626359

G

A

exonic

De novo

nonsynonymous SNV

NM_000094

c.C2384T

p.T795I

11.33

-

Fu2022 E

COL7A1

08C71265

chr3:
48616700-48616700

C

A

exonic

De novo

nonsynonymous SNV

NM_000094

c.G5318T

p.G1773V

17.77

-

Fu2022 E

COL7A1

SP0039198

chr3:
48604949-48604949

T

G

intronic

De novo

-

Trost2022 G

COL7A1

Uddin2014:19

chr3:
48621941-48621941

G

T

exonic

De novo

synonymous SNV

NM_000094

c.C4096A

p.R1366R

-

Uddin2014 E

COL7A1

10C109049

chr3:
48621941-48621941

G

A

exonic

De novo

nonsynonymous SNV

NM_000094

c.C4096T

p.R1366W

10.44

3.296E-5

Fu2022 E

COL7A1

SP0071401

chr3:
48620169-48620169

C

A

intronic

De novo

-

Fu2022 E

COL7A1

SP0005327

chr3:
48616287-48616287

T

C

intronic

De novo

-

Fu2022 E

COL7A1

SP0082784

chr3:
48623961-48623961

T

C

intronic

De novo

-

Fu2022 E
Trost2022 G

COL7A1

09C88928

chr3:
48620021-48620021

C

T

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

COL7A1

SP0015413

chr3:
48606253-48606253

G

A

exonic

De novo

synonymous SNV

NM_000094

c.C7722T

p.A2574A

-

7.419E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

COL7A1

AU2513301

chr3:
48623870-48623870

C

T

exonic

nonsynonymous SNV

NM_000094

c.G3445A

p.D1149N

12.1

-

Zhou2022 GE

COL7A1

DEASD_0427_001

Complex Event; expand row to view variants

De novo

synonymous SNV, nonsynonymous SNV

NM_000094
NM_000094
NM_000094

c.A7620C
c.G7622A
c.C7621A

p.E2540D
p.R2541Q
p.R2541R

10.84

1.647E-5

DeRubeis2014 E
DeRubeis2014 E
DeRubeis2014 E
Kosmicki2017 E
Kosmicki2017 E
Kosmicki2017 E
Zhou2022 GE
Zhou2022 GE
Zhou2022 GE

COL7A1

08C74824

chr3:
48623870-48623870

C

T

exonic

De novo

nonsynonymous SNV

NM_000094

c.G3445A

p.D1149N

12.1

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

COL7A1

SP0039088

chr3:
48628182-48628182

C

G

exonic

De novo

synonymous SNV

NM_000094

c.G1704C

p.G568G

-

Fu2022 E
Trost2022 G
Zhou2022 GE

COL7A1

SP0058698

chr3:
48621761-48621761

G

A

exonic

De novo

synonymous SNV

NM_000094

c.C4167T

p.G1389G

-

Fu2022 E
Trost2022 G
Zhou2022 GE

COL7A1

SSC08218

chr3:
48623618-48623618

C

T

exonic

De novo

synonymous SNV

NM_000094

c.G3612A

p.A1204A

-

2.487E-5

Lim2017 E
Trost2022 G

COL7A1

G01-GEA-26-HI

chr3:
48610098-48610098

G

T

intronic

De novo

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

COL7A1

2-1368-003

chr3:
48621941-48621941

G

A

exonic

De novo

nonsynonymous SNV

NM_000094

c.C4096T

p.R1366W

10.44

3.296E-5

Jiang2013 G
Trost2022 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE

COL7A1

13684.p1

chr3:
48623618-48623618

C

T

exonic

De novo

synonymous SNV

NM_000094

c.G3612A

p.A1204A

-

2.487E-5

Satterstrom2020 E
Zhou2022 GE

COL7A1

mAGRE4511

chr3:
48630534-48630534

C

T

splicing

Paternal

splicing

18.01

-

Cirnigliaro2023 G

Source Variant Information

, -

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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