Variant Results

or

Results for "COL19A1"

Variant Events: 54

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

COL19A1

11409.p1

chr6:
70637786-70637786

G

T

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

COL19A1

2-1702-003

chr6:
70750076-70750076

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

COL19A1

MCD-033-4

chr6:
70890229-70890229

C

T

exonic

Maternal

nonsynonymous SNV

NM_001858

c.C2693T

p.P898L

13.21

-

Tuncay2023 G

COL19A1

A13

chr6:
70588467-70588467

C

G

intronic

De novo

-

Wu2018 G

COL19A1

1-0551-004

chr6:
70606542-70606545

CTCA

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

COL19A1

SP0025018

chr6:
70878099-70878099

G

A

exonic

nonsynonymous SNV

NM_001858

c.G2533A

p.G845S

19.13

1.657E-5

Zhou2022 GE

COL19A1

08C75209

chr6:
70639589-70639589

G

T

exonic

De novo

synonymous SNV

NM_001858

c.G663T

p.V221V

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

COL19A1

2-0198-005

chr6:
70582496-70582496

T

A

intronic

De novo

-

Yuen2017 G

COL19A1

1-0447-003

chr6:
70866386-70866406

GGAGAGAGAGAGAGAGAGAGA

GGAGAGAGAGAGAGAGAGA

intronic

De novo

-

Yuen2017 G

COL19A1

1-0458-003

chr6:
70772898-70772898

C

A

intronic

De novo

-

Yuen2017 G

COL19A1

F10129-4

chr6:
70854933-70854933

G

C

intronic

De novo

-

4.368E-5

Satterstrom2020 E
Trost2022 G

COL19A1

2-0198-004

chr6:
70582496-70582496

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

COL19A1

AU4145303

chr6:
70587349-70587349

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

COL19A1

1-0025-004

chr6:
70868622-70868622

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

COL19A1

V5T5W_01

chr6:
70606474-70606474

C

A

intronic

De novo

-

Trost2022 G

COL19A1

3-0409-000

chr6:
70610082-70610082

T

G

intronic

De novo

-

Trost2022 G

COL19A1

mAGRE4908

chr6:
70897778-70897778

G

C

splicing

Paternal

splicing

23.2

3.0E-4

Cirnigliaro2023 G

COL19A1

5-5227-003

chr6:
70590647-70590647

T

C

intronic

De novo

-

Trost2022 G

COL19A1

mAGRE4299

chr6:
70897778-70897778

G

C

splicing

Paternal

splicing

23.2

3.0E-4

Cirnigliaro2023 G

COL19A1

REACH000258

chr6:
70596363-70596363

C

T

intronic

De novo

-

Trost2022 G

COL19A1

mAGRE5291

chr6:
70877935-70877935

C

T

exonic

Paternal

stopgain

NM_001858

c.C2464T

p.R822X

40.0

-

Cirnigliaro2023 G

COL19A1

mAGRE1237

chr6:
70854808-70854808

A

G

splicing

Paternal

splicing

14.28

1.0E-4

Cirnigliaro2023 G

COL19A1

mAGRE1538

chr6:
70847641-70847641

T

G

splicing

Paternal

splicing

19.91

-

Cirnigliaro2023 G

COL19A1

03HI2508A

chr6:
70847641-70847641

T

G

splicing

19.91

-

Doan2019 E

COL19A1

1-1058-004

chr6:
70745257-70745257

C

A

intronic

De novo

-

Trost2022 G

COL19A1

03HI2508A

chr6:
70733517-70733517

A

T

splicing

20.7

-

Doan2019 E

COL19A1

MSSNG00404-003

chr6:
70750744-70750744

G

A

intronic

De novo

-

Trost2022 G

COL19A1

1-1119-003

chr6:
70693156-70693156

C

G

intronic

De novo

-

Trost2022 G

COL19A1

4-0095-003

chr6:
70738333-70738333

G

GA

intronic

De novo

-

Trost2022 G

COL19A1

70228

chr6:
70637786-70637786

G

T

intronic

De novo

-

Trost2022 G

COL19A1

09C84588

chr6:
70608807-70608807

C

T

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

COL19A1

REACH000435

chr6:
70668428-70668428

C

T

intronic

De novo

-

Trost2022 G

COL19A1

4-0039-003

chr6:
70623822-70623822

C

T

intronic

De novo

-

Trost2022 G

COL19A1

MSSNG00125-003

chr6:
70626048-70626048

T

A

intronic

De novo

-

Trost2022 G

COL19A1

iHART1237

chr6:
70854808-70854808

A

G

splicing

Paternal

splicing

14.28

1.0E-4

Ruzzo2019 G

COL19A1

MSSNG00067-003

chr6:
70815639-70815639

C

T

intronic

De novo

-

Trost2022 G

COL19A1

iHART1538

chr6:
70847641-70847641

T

G

splicing

Paternal

splicing

19.91

-

Ruzzo2019 G

COL19A1

5-0033-004

chr6:
70825725-70825725

T

TTG

intronic

De novo

-

Trost2022 G

COL19A1

AU4056301

chr6:
70599760-70599760

G

C

intronic

De novo

-

Yuen2017 G

COL19A1

3-0543-000

chr6:
70785185-70785185

G

A

intronic

De novo

-

Trost2022 G

COL19A1

AU4056301

chr6:
70599762-70599762

G

C

intronic

De novo

-

Yuen2017 G

COL19A1

MSSNG00369-005

chr6:
70793004-70793004

A

G

intronic

De novo

-

Trost2022 G

COL19A1

AU3874302

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

COL19A1

10-1104-003

chr6:
70776566-70776566

A

G

intronic

De novo

-

Trost2022 G

COL19A1

REACH000229

chr6:
70784416-70784416

G

A

intronic

De novo

-

Trost2022 G

COL19A1

MSSNG00395-003

chr6:
70759685-70759685

G

A

intronic

De novo

-

Trost2022 G

COL19A1

MSSNG00379-003

chr6:
70767009-70767009

G

C

intronic

De novo

-

Trost2022 G

COL19A1

2-0296-004

chr6:
70921969-70921972

CCAT

TCCA

UTR3

De novo

-

Trost2022 G

COL19A1

MCD-033-4

chr6:
70866229-70866229

C

A

exonic

Paternal

nonsynonymous SNV

NM_001858

c.C2206A

p.P736T

13.31

3.0E-4

Tuncay2023 G

COL19A1

2-1291-003

chr6:
70897237-70897237

T

C

intronic

De novo

-

Trost2022 G

COL19A1

MCD-033-4

chr6:
70852699-70852699

C

T

exonic

Paternal

nonsynonymous SNV

NM_001858

c.C1613T

p.P538L

10.05

3.0E-4

Tuncay2023 G

COL19A1

4-0064-003

chr6:
70905693-70905693

G

A

intronic

De novo

-

Trost2022 G

COL19A1

SP0223942

chr6:
70886501-70886501

T

G

intronic

De novo

-

Trost2022 G

COL19A1

1-0046-003

chr6:
70897237-70897237

T

C

intronic

De novo

-

Trost2022 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
	More