Variant Results

or

Results for "MARK1"

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

MARK1

10C116616

chr1:
220835211-220835211

G

A

exonic

De novo

synonymous SNV

NM_001286128
NM_001286126
NM_001286124
NM_018650

c.G1980A
c.G2046A
c.G2094A
c.G2091A

p.P660P
p.P682P
p.P698P
p.P697P

-

1.678E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MARK1

MSSNG00053-003

chr1:
220740152-220740152

T

A

intronic

De novo

-

Trost2022 G

MARK1

552-06-107496

chr1:
220835285-220835287

GAA

G

exonic

De novo

frameshift deletion

NM_001286128
NM_001286126
NM_001286124
NM_018650

c.2055_2056del
c.2121_2122del
c.2169_2170del
c.2166_2167del

p.R685fs
p.R707fs
p.R723fs
p.R722fs

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MARK1

AU3702307

chr1:
220702081-220702081

C

G

UTR5

De novo

-

Trost2022 G

MARK1

1-0265-004

chr1:
220849862-220849862

G

A

intergenic

De novo

-

Yuen2017 G

MARK1

REACH000678

chr1:
220814555-220814555

T

A

intronic

De novo

-

Trost2022 G

MARK1

1-0043-003

chr1:
220808660-220808660

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MARK1

AU3790301

chr1:
220817042-220817042

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MARK1

2-1365-003

chr1:
220839894-220839894

G

T

intergenic

De novo

-

Yuen2017 G

MARK1

1-0265-003

chr1:
220849862-220849862

G

A

intergenic

De novo

-

Yuen2017 G

MARK1

1-0296-003

chr1:
220749347-220749347

C

CTCCTTCCT

intronic

De novo

-

Yuen2017 G

MARK1

Wang2023:102

chr1:
220825333-220825333

C

T

exonic

De novo

nonsynonymous SNV

NM_001286128
NM_001286124
NM_001286126
NM_018650

c.C1511T
c.C1577T
c.C1577T
c.C1577T

p.T504M
p.T526M
p.T526M
p.T526M

13.09

8.27E-6

Wang2023 E

MARK1

AU3997302

chr1:
220784448-220784448

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MARK1

3-0215-000

chr1:
220835359-220835359

G

A

exonic

De novo

nonsynonymous SNV

NM_001286128
NM_001286126
NM_001286124
NM_018650

c.G2128A
c.G2194A
c.G2242A
c.G2239A

p.A710T
p.A732T
p.A748T
p.A747T

20.4

2.0E-4

Tammimies2015 E
Trost2022 G

MARK1

SP0117792

chr1:
220808698-220808698

T

G

intronic

De novo

-

Fu2022 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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