Variant Results

or

Results for "COL27A1"

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

COL27A1

12380.p1

chr9:
117044593-117044593

G

T

exonic

De novo

nonsynonymous SNV

NM_032888

c.G3754T

p.G1252C

16.47

2.476E-5

Ji2016 E
Krumm2015 E

COL27A1

2-0144-004

chr9:
117082417-117082417

A

AC

intergenic

De novo

-

Yuen2017 G

COL27A1

7-0197-003

chr9:
117046830-117046830

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

COL27A1

MSSNG00021-004

chr9:
116927597-116927597

C

G

intronic

De novo

-

Trost2022 G

COL27A1

7-0399-003

chr9:
116927890-116927890

T

C

intronic

De novo

-

Trost2022 G

COL27A1

13071.p1

chr9:
116930294-116930294

C

T

exonic

De novo

synonymous SNV

NM_032888

c.C459T

p.D153D

-

2.0E-4

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

COL27A1

14411.p1

chr9:
116930778-116930778

G

A

exonic

De novo

nonsynonymous SNV

NM_032888

c.G943A

p.G315R

4.601

-

Iossifov2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

COL27A1

13830.p1

chr9:
116968504-116968504

C

T

intronic

Mosaic, De novo

-

Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

COL27A1

13585.p1

chr9:
117062318-117062322

ACTCG

A

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E

COL27A1

MSSNG00022-003

chr9:
117028231-117028231

T

C

intronic

De novo

-

Trost2022 G

COL27A1

13063.p1

chr9:
117044693-117044693

G

A

intronic

De novo

-

5.0E-4

Satterstrom2020 E

COL27A1

3-0497-000

chr9:
117032955-117032955

C

T

intronic

De novo

-

Trost2022 G

COL27A1

SSC09360

chr9:
116968504-116968504

C

T

intronic

De novo

-

Trost2022 G

COL27A1

1-0842-003

chr9:
117023482-117023482

G

A

intronic

De novo

-

Trost2022 G

COL27A1

1-1169-003

chr9:
116943647-116943647

C

T

intronic

De novo

-

Trost2022 G

COL27A1

MSSNG00013-004

chr9:
116961735-116961735

C

T

intronic

De novo

-

Trost2022 G

COL27A1

35937

chr9:
116930294-116930294

C

T

exonic

De novo

synonymous SNV

NM_032888

c.C459T

p.D153D

-

2.0E-4

Trost2022 G

COL27A1

MT_24.3

chr9:
116941863-116941863

G

A

intronic

De novo

-

Trost2022 G

COL27A1

1-0507-003

chr9:
116989549-116989549

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

COL27A1

1-0153-004

chr9:
117057620-117057626

CAATATT

C

intronic

De novo

-

Yuen2017 G

COL27A1

14411_p1

chr9:
116930778-116930778

G

A

exonic

De novo

nonsynonymous SNV

NM_032888

c.G943A

p.G315R

4.601

-

Fu2022 E

COL27A1

PN400363

chr9:
117044597-117044597

G

A

exonic

Unknown

nonsynonymous SNV

NM_032888

c.G3758A

p.R1253H

14.95

0.0015

Leblond2019 E

COL27A1

SSC06654

chr9:
117044693-117044693

G

A

intronic

De novo

-

5.0E-4

Trost2022 G

COL27A1

MSSNG00204-003

chr9:
117072706-117072706

A

G

intronic

De novo

-

Trost2022 G

COL27A1

08C73664

chr9:
117051247-117051247

C

T

exonic

De novo

synonymous SNV

NM_032888

c.C4152T

p.P1384P

-

2.5E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

COL27A1

1-0153-005

chr9:
117057620-117057626

CAATATT

C

intronic

De novo

-

Yuen2017 G

COL27A1

SP0102469

chr9:
117062387-117062387

G

T

exonic

De novo

nonsynonymous SNV

NM_032888

c.G4622T

p.G1541V

22.9

-

Fu2022 E
Trost2022 G
Zhou2022 GE

COL27A1

SP0046032

chr9:
117071479-117071479

C

A

intronic

De novo

-

Fu2022 E

COL27A1

SP0031230

chr9:
116931743-116931743

G

A

exonic

De novo

synonymous SNV

NM_032888

c.G1908A

p.P636P

-

Fu2022 E
Trost2022 G
Zhou2022 GE

COL27A1

AU2357301

chr9:
117051247-117051247

C

T

exonic

synonymous SNV

NM_032888

c.C4152T

p.P1384P

-

2.5E-5

Zhou2022 GE

COL27A1

AU076508

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

COL27A1

9190771

chr9:
117052430-117052430

G

GGCC

intronic

De novo

-

Fu2022 E

COL27A1

11367.p1

chr9:
117004458-117004458

C

A

intronic

Mosaic Mat.

-

Dou2017 E

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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