Variant Results

or

or

Results for "NCAPG2"

Variant Events: 21

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

NCAPG2

2-1235-003

chr7:
158495514-158495514

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

NCAPG2

7-0405-004

chr7:
158477759-158477759

G

A

intronic

De novo

-

-

Trost2022 G

NCAPG2

MSSNG00008-003

chr7:
158485205-158485205

G

A

intronic

De novo

-

-

Trost2022 G

NCAPG2

SP0041715

chr7:
158445039-158445039

T

C

exonic

De novo

synonymous SNV

NM_001281933
NM_017760
NM_001281932

c.A2880G
c.A2880G
c.A2880G

p.K960K
p.K960K
p.K960K

9.51

-

Fu2022 E
Trost2022 G
Zhou2022 GE

NCAPG2

SP0120116

chr7:
158444958-158444958

A

C

intronic

De novo

-

-

Fu2022 E

NCAPG2

SP0087323

chr7:
158444958-158444958

A

C

intronic

De novo

-

-

Fu2022 E

NCAPG2

2-1365-003

chr7:
158461004-158461004

T

A

intronic

De novo

-

-

Yuen2017 G

NCAPG2

13400.p1

chr7:
158457275-158457275

G

C

exonic

De novo

synonymous SNV

NM_001281933
NM_017760
NM_001281932

c.C1647G
c.C1647G
c.C1647G

p.A549A
p.A549A
p.A549A

2.292

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

NCAPG2

SP0119322

chr7:
158460992-158461023

TCCCTTACCCACTACTGGGTCCCTCCGCCCTC

T

intronic

De novo

-

-

Fu2022 E

NCAPG2

2-1275-003

chr7:
158485549-158485549

C

G

exonic

De novo

nonsynonymous SNV

NM_001281933
NM_017760
NM_001281932

c.G367C
c.G367C
c.G367C

p.V123L
p.V123L
p.V123L

11.84

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

NCAPG2

SP0134089

chr7:
158459964-158459967

GCCT

G

intronic

De novo

-

-

Fu2022 E

NCAPG2

7-0274-003

chr7:
158444187-158444187

G

A

intronic

De novo

-

-

Trost2022 G

NCAPG2

AU2427301

chr7:
158442807-158442807

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

NCAPG2

3-0526-000

chr7:
158457105-158457105

C

G

intronic

De novo

-

-

Trost2022 G

NCAPG2

AU3951302

chr7:
158430250-158430250

T

C

intronic

De novo

-

-

Trost2022 G

NCAPG2

7-0199-003

chr7:
158438968-158438972

CTGTG

C

intronic

De novo

-

-

Trost2022 G

NCAPG2

SSC07823

chr7:
158457275-158457275

G

C

exonic

De novo

synonymous SNV

NM_001281933
NM_017760
NM_001281932

c.C1647G
c.C1647G
c.C1647G

p.A549A
p.A549A
p.A549A

2.292

-

Fu2022 E
Trost2022 G

NCAPG2

1-1036-003

chr7:
158430248-158430248

A

G

intronic

De novo

-

-

Trost2022 G

NCAPG2

10003901002775381-C

chr7:
158480083-158480083

T

C

exonic

De novo

nonsynonymous SNV

NM_001281933
NM_017760
NM_001281932

c.A724G
c.A724G
c.A724G

p.M242V
p.M242V
p.M242V

0.042

Fu2022 E

NCAPG2

3-0749-000A

chr7:
158430250-158430250

T

G

intronic

De novo

-

-

Trost2022 G

NCAPG2

7-0123-003

chr7:
158426449-158426450

AT

A

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
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