Variant Results

or

Results for "NAA15"

Variant Events: 58

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

NAA15

SF0098672.p1

chr4:
140282981-140282981

T

G

exonic

nonsynonymous SNV

NM_057175

c.T1643G

p.L548R

25.3

-

Wang2020 T

NAA15

SF0122792.p1

chr4:
140272350-140272351

AT

A

exonic

frameshift deletion

NM_057175

c.818delT

p.M273fs

-

Wang2020 T

NAA15

160658194898-C

chr4:
140262101-140262101

A

T

exonic

De novo

stopgain

NM_057175

c.A280T

p.K94X

38.0

-

Fu2022 E

NAA15

GX0410.p1

chr4:
140255347-140255347

A

C

exonic

De novo

nonsynonymous SNV

NM_057175

c.A74C

p.Q25P

22.4

-

Guo2018 T

NAA15

Ishay2021:22

chr4:
140262101-140262101

A

T

exonic

De novo

stopgain

NM_057175

c.A280T

p.K94X

38.0

-

Ishay2021 E

NAA15

GX0410.p1

chr4:
140283079-140283079

G

A

exonic

Paternal

nonsynonymous SNV

NM_057175

c.G1741A

p.E581K

27.4

1.664E-5

Guo2018 T

NAA15

1-0092-003

chr4:
140285788-140285788

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NAA15

AU4099301

chr4:
140349659-140349659

T

A

intergenic

De novo

-

Yuen2017 G

NAA15

M27877

chr4:
140222936-140222936

C

A/C

exonic

Paternal

-

Guo2018 T

NAA15

SAGE_146.03

chr4:
140262155-140262155

G

A

exonic

Unknown

nonsynonymous SNV

NM_057175

c.G334A

p.D112N

36.0

-

Wang2020 T

NAA15

5-0050-004

chr4:
140305899-140305899

A

ATT

intronic

De novo

-

Trost2022 G
Yuen2017 G

NAA15

M30862

chr4:
140282877-140282877

G

A

splicing

De novo

splicing

24.4

-

Guo2018 T

NAA15

1-0406-003

chr4:
140231447-140231447

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NAA15

M26881

chr4:
140275201-140275201

G

A

exonic

Paternal

nonsynonymous SNV

NM_057175

c.G1036A

p.V346I

24.3

1.657E-5

Guo2018 T

NAA15

03C14733

chr4:
140258087-140258092

TGACTT

T

exonic

De novo

frameshift deletion

NM_057175

c.226_230del

p.D76fs

-

Stessman2017 T
Stessman2017 T

NAA15

7-0095-003

chr4:
140305899-140305899

A

ATT

intronic

De novo

-

Trost2022 G
Yuen2017 G

NAA15

PN400581

chr4:
140283079-140283079

G

A

exonic

Unknown

nonsynonymous SNV

NM_057175

c.G1741A

p.E581K

27.4

1.664E-5

Leblond2019 E

NAA15

AU3881302

chr4:
140363942-140363952

AATATATATAT

AATATATATATAT

intergenic

De novo

-

Yuen2017 G

NAA15

ACGC_GX0410.p1

chr4:
140283079-140283079

G

A

exonic

Paternal

nonsynonymous SNV

NM_057175

c.G1741A

p.E581K

27.4

1.664E-5

Wang2020 T

NAA15

AU031003

Complex Event; expand row to view variants

De novo

frameshift deletion

NM_057175
NM_057175
NM_057175

c.530_531del
c.529_530del
c.532_533del

p.T177fs
p.T177fs
p.Q178fs

-

Stessman2017 T
Stessman2017 T
Trost2022 G
Wang2020 T
Yuen2017 G
Zhou2022 GE

NAA15

ACGC_M27877

chr4:
140222936-140222936

C

A

exonic

Paternal

nonsynonymous SNV

NM_057175

c.C5A

p.P2Q

27.5

-

Wang2020 T

NAA15

170141

chr4:
140278617-140278617

C

T

exonic

De novo

stopgain

NM_057175

c.C1165T

p.Q389X

40.0

-

Fu2022 E

NAA15

11724-1

chr4:
140270692-140270692

A

G

exonic

De novo

synonymous SNV

NM_057175

c.A768G

p.E256E

-

Fu2022 E

NAA15

2-1132-003

chr4:
140340790-140340790

A

C

intergenic

De novo

-

Yuen2017 G

NAA15

ACGC_HN0189.p1

chr4:
140278596-140278596

C

A

exonic

Maternal

nonsynonymous SNV

NM_057175

c.C1144A

p.Q382K

33.0

-

Wang2020 T

NAA15

JASD_Fam0048

chr4:
140262083-140262084

CT

C

exonic

De novo

frameshift deletion

NM_057175

c.263delT

p.L88fs

-

Takata2018 E

NAA15

SanDiego_00672-Q2E7S

chr4:
140275196-140275196

A

T

exonic

Unknown

nonsynonymous SNV

NM_057175

c.A1031T

p.E344V

23.3

-

Wang2020 T

NAA15

1-0609-003

chr4:
140266944-140266944

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NAA15

SP0365487

chr4:
140272766-140272766

G

C

splicing

18.07

-

Zhou2022 GE

NAA15

SP0174104

chr4:
140299913-140299914

AG

A

exonic

De novo

frameshift deletion

NM_057175

c.2061delG

p.K687fs

-

Trost2022 G
Zhou2022 GE

NAA15

GX0330.p1

chr4:
140270660-140270660

G

A

exonic

Maternal

nonsynonymous SNV

NM_057175

c.G736A

p.V246I

10.23

1.735E-5

Guo2018 T

NAA15

1-0699-003

chr4:
140367906-140367906

A

G

intergenic

De novo

-

Yuen2017 G

NAA15

ACGC_M30862

chr4:
140282877-140282877

G

A

splicing

De novo

splicing

24.4

-

Wang2020 T

NAA15

AGRE_AU031003

chr4:
140264105-140264107

AAC

A

exonic

De novo

frameshift deletion

NM_057175

c.529_530del

p.T177fs

-

Wang2020 T

NAA15

AU3913301

chr4:
140236248-140236248

G

T

intronic

De novo

-

Trost2022 G

NAA15

AU3125301

chr4:
140276421-140276421

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NAA15

GX0279.p1

chr4:
140272359-140272359

C

T

exonic

Maternal

nonsynonymous SNV

NM_057175

c.C826T

p.R276W

14.92

8.254E-5

Guo2018 T

NAA15

AGRE_03C14733

chr4:
140258086-140258091

ATGACT

A

exonic

De novo

frameshift deletion

NM_057175

c.225_229del

p.N75fs

-

Wang2020 T

NAA15

M20699

chr4:
140306067-140306067

A

A/G

exonic

Maternal

-

Guo2018 T

NAA15

1-0161-003

chr4:
140283610-140283610

G

A

intronic

De novo

-

Trost2022 G

NAA15

SP0098672

chr4:
140282981-140282981

T

G

exonic

De novo

nonsynonymous SNV

NM_057175

c.T1643G

p.L548R

25.3

-

Fu2022 E
Zhou2022 GE

NAA15

1-0161-003

chr4:
140283669-140283670

TG

CA

intronic

De novo

-

Trost2022 G

NAA15

1-0161-003

chr4:
140283601-140283601

G

A

intronic

De novo

-

Trost2022 G

NAA15

1-0161-004

chr4:
140283610-140283610

G

A

intronic

De novo

-

Trost2022 G

NAA15

REACH000537

chr4:
140271639-140271639

C

A

intronic

De novo

-

Trost2022 G

NAA15

1-0161-004

chr4:
140283601-140283601

G

A

intronic

De novo

-

Trost2022 G

NAA15

MSSNG00396-003

chr4:
140260914-140260917

AAAC

A

intronic

De novo

-

Trost2022 G

NAA15

DEASD_0112_001

chr4:
140262130-140262130

C

G

exonic

Unknown, De novo

stopgain

NM_057175

c.C309G

p.Y103X

36.0

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE

NAA15

MSSNG00011-004

chr4:
140265494-140265494

G

T

splicing

De novo

splicing

19.29

-

Trost2022 G

NAA15

AC02-1155-01

chr4:
140272765-140272765

G

T

exonic

Unknown, De novo

nonsynonymous SNV

NM_057175

c.G1014T

p.K338N

21.5

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE

NAA15

SAGE_BK834-02

chr4:
140299909-140299909

G

C

splicing

Maternal

splicing

23.2

-

Wang2020 T

NAA15

SAGE_BK834-01

chr4:
140299909-140299909

G

C

splicing

Maternal

splicing

23.2

-

Wang2020 T

NAA15

HN0189.p1

chr4:
140278596-140278596

C

A

exonic

Maternal

nonsynonymous SNV

NM_057175

c.C1144A

p.Q382K

33.0

-

Guo2018 T

NAA15

MSSNG00123-003

chr4:
140302001-140302001

A

T

intronic

De novo

-

Trost2022 G

NAA15

SP0122792

chr4:
140272350-140272351

AT

A

exonic

De novo

frameshift deletion

NM_057175

c.818delT

p.M273fs

-

Antaki2022 GE
Fu2022 E
Zhou2022 GE

NAA15

mAGRE4142

chr4:
140258086-140258091

ATGACT

A

exonic

De novo

frameshift deletion

NM_057175

c.225_229del

p.N75fs

-

Cirnigliaro2023 G

NAA15

AU4462302

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

NAA15

Miyake2023:17677

chr4:
140262084-140262085

TT

T

exonic

De novo

frameshift deletion

NM_057175

c.264delT

p.L88fs

-

Miyake2023 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
	More