Variant Results

or

Results for "MARCH1"

Variant Events: 35

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

MARCH1

A14

chr4:
164576928-164576928

C

T

intronic

De novo

-

Wu2018 G

MARCH1

2-0319-004

chr4:
164604074-164604074

C

T

intronic

De novo

-

Yuen2017 G

MARCH1

AU3638302

chr4:
164961119-164961137

TTATATATATATATATATA

TTATATATATATATATATATA

intronic

De novo

-

Yuen2017 G

MARCH1

AU028305

chr4:
164662595-164662595

C

T

intronic

De novo

-

Yuen2017 G

MARCH1

AU3809302

chr4:
165349269-165349269

G

T

intergenic

De novo

-

Yuen2017 G

MARCH1

1-0978-003

chr4:
164865787-164865787

T

C

intronic

De novo

-

Yuen2017 G

MARCH1

AU003406

chr4:
164559556-164559556

C

G

intronic

De novo

-

Yuen2017 G

MARCH1

AU4089301

chr4:
164984825-164984825

C

T

intronic

De novo

-

Yuen2017 G

MARCH1

AU4264302

chr4:
164569450-164569450

C

T

intronic

De novo

-

Yuen2017 G

MARCH1

AU003406

chr4:
164768178-164768179

CA

C

intronic

De novo

-

Yuen2017 G

MARCH1

2-1246-003

chr4:
164656413-164656413

C

T

intronic

De novo

-

Yuen2017 G

MARCH1

1-0197-004

chr4:
164742209-164742209

C

T

intronic

De novo

-

Yuen2017 G

MARCH1

2-0310-004

chr4:
165254983-165254983

C

T

intronic

De novo

-

Yuen2017 G

MARCH1

2-1409-003

chr4:
164929459-164929459

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MARCH1

AU4186302

chr4:
165347238-165347238

C

T

intergenic

De novo

-

Yuen2017 G

MARCH1

3-0307-000

chr4:
164784803-164784803

G

A

intronic

De novo

-

Yuen2017 G

MARCH1

2-1306-004

chr4:
165317659-165317659

G

C

intergenic

De novo

-

Yuen2017 G

MARCH1

AU3861302

chr4:
165023801-165023801

G

A

intronic

De novo

-

Yuen2017 G

MARCH1

AU2569303

chr4:
164968183-164968183

A

C

intronic

De novo

-

Yuen2017 G

MARCH1

AU4054301

chr4:
164822198-164822198

C

T

intronic

De novo

-

Yuen2017 G

MARCH1

1-0353-003

chr4:
165306583-165306583

T

C

intergenic

De novo

-

Yuen2017 G

MARCH1

2-1645-003

chr4:
164915391-164915391

G

A

intronic

De novo

-

Yuen2017 G

MARCH1

AU071204

chr4:
165165832-165165832

G

C

intronic

De novo

-

Yuen2017 G

MARCH1

AU2162302

chr4:
164471305-164471305

G

A

intronic

De novo

-

Yuen2017 G

MARCH1

2-0214-003

chr4:
164802364-164802364

T

C

intronic

De novo

-

Yuen2017 G

MARCH1

1-0197-003

chr4:
164742209-164742209

C

T

intronic

De novo

-

Yuen2017 G

MARCH1

1-0976-003

chr4:
165295827-165295834

TTAATAAT

TTAAT

intronic

De novo

-

Yuen2017 G

MARCH1

2-1333-003

chr4:
165063675-165063675

C

G

intronic

De novo

-

Yuen2017 G

MARCH1

1-0383-003

chr4:
164972098-164972118

GTAATAATAATAATAATAATA

GTAATAATAATAATAATA

intronic

De novo

-

Yuen2017 G

MARCH1

2-1306-003

chr4:
165317659-165317659

G

C

intergenic

De novo

-

Yuen2017 G

MARCH1

63-449

chr4:
164592623-164592623

G

C

intronic

De novo

-

Michaelson2012 G

MARCH1

1-0469-005

chr4:
164844346-164844346

C

G

intronic

De novo

-

Yuen2017 G

MARCH1

2-1382-003

chr4:
164590337-164590337

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MARCH1

1-0300-004

chr4:
164493494-164493494

T

C

intronic

De novo

-

Yuen2017 G

MARCH1

11382.p1

chr4:
164497974-164497974

G

GTT

intronic

De novo

-

Wilfert2021 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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