Variant Results

or

Results for "NBAS"

Variant Events: 61

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

NBAS

AU2019302

chr2:
15340535-15340535

A

T

intronic

De novo

-

Yuen2017 G

NBAS

DEASD_0021_001

chr2:
15698779-15698783

CACTT

C

intronic

De novo

-

Kosmicki2017 E

NBAS

3-0409-000

Complex Event; expand row to view variants

De novo

synonymous SNV, nonsynonymous SNV

NM_015909
NM_015909

c.C5226T
c.A5225T

p.H1742H
p.H1742L

21.7

-

Tammimies2015 E
Tammimies2015 E

NBAS

11089.p1

chr2:
15668449-15668449

A

T

intronic

De novo

-

Turner2016 G

NBAS

2-1581-003

chr2:
15368223-15368223

C

T

intronic

De novo

-

Yuen2017 G

NBAS

AU2863302

chr2:
15351656-15351656

C

T

intronic

De novo

-

Yuen2017 G

NBAS

SP0093602

chr2:
15470857-15470857

A

C

exonic

De novo

synonymous SNV

NM_015909

c.T4212G

p.A1404A

12.54

-

Fu2022 E

NBAS

AU072904

chr2:
15680901-15680901

C

T

intronic

De novo

-

Yuen2017 G

NBAS

iHART1739

chr2:
15698725-15698726

TA

T

exonic

Unknown

frameshift deletion

NM_015909

c.150delT

p.F50fs

-

Ruzzo2019 G

NBAS

iHART1652

chr2:
15698707-15698707

G

A

exonic

Paternal

stopgain

NM_015909

c.C169T

p.R57X

37.0

-

Ruzzo2019 G

NBAS

iHART1738

chr2:
15698725-15698726

TA

T

exonic

Unknown

frameshift deletion

NM_015909

c.150delT

p.F50fs

-

Ruzzo2019 G

NBAS

iHART1740

chr2:
15698725-15698726

TA

T

exonic

Unknown

frameshift deletion

NM_015909

c.150delT

p.F50fs

-

Ruzzo2019 G

NBAS

iHART2051

chr2:
15696945-15696945

T

C

splicing

Paternal

splicing

18.17

1.652E-5

Ruzzo2019 G

NBAS

iHART2049

chr2:
15696945-15696945

T

C

splicing

Paternal

splicing

18.17

1.652E-5

Ruzzo2019 G

NBAS

Marques2022:174

chr2:
15415865-15415865

T

A

exonic

nonsynonymous SNV

NM_015909

c.A5467T

p.I1823F

19.55

5.0E-4

Marques2022 ET

NBAS

Marques2022:173

chr2:
15415627-15415627

G

A

exonic

nonsynonymous SNV

NM_015909

c.C5705T

p.S1902F

24.5

-

Marques2022 ET

NBAS

Marques2022:176

chr2:
15427225-15427225

G

A

exonic

nonsynonymous SNV

NM_015909

c.C5110T

p.H1704Y

17.24

2.0E-4

Marques2022 ET

NBAS

Marques2022:175

chr2:
15415865-15415865

T

A

exonic

nonsynonymous SNV

NM_015909

c.A5467T

p.I1823F

19.55

5.0E-4

Marques2022 ET

NBAS

AU2000302

chr2:
15697558-15697558

T

C

intronic

De novo

-

Yuen2017 G

NBAS

Marques2022:172

chr2:
15374831-15374831

C

T

exonic

nonsynonymous SNV

NM_015909

c.G5984A

p.R1995Q

32.0

6.0E-4

Marques2022 ET

NBAS

Marques2022:171

chr2:
15359049-15359049

G

T

exonic

nonsynonymous SNV

NM_015909

c.C6280A

p.P2094T

26.6

8.343E-6

Marques2022 ET

NBAS

Marques2022:182

chr2:
15449305-15449305

G

A

exonic

nonsynonymous SNV

NM_015909

c.C4649T

p.A1550V

28.7

2.0E-4

Marques2022 ET

NBAS

10001451004926525-C

chr2:
15618406-15618406

T

C

exonic

De novo

nonsynonymous SNV

NM_015909

c.A1091G

p.Y364C

13.17

6.738E-5

Fu2022 E

NBAS

Marques2022:181

chr2:
15448339-15448339

C

T

splicing

16.54

-

Marques2022 ET

NBAS

Marques2022:184

chr2:
15467889-15467889

A

C

exonic

nonsynonymous SNV

NM_015909

c.T4567G

p.F1523V

21.7

-

Marques2022 ET

NBAS

Marques2022:183

chr2:
15449305-15449305

G

A

exonic

nonsynonymous SNV

NM_015909

c.C4649T

p.A1550V

28.7

2.0E-4

Marques2022 ET

NBAS

Marques2022:178

chr2:
15427256-15427256

G

C

exonic

stopgain

NM_015909

c.C5079G

p.Y1693X

41.0

-

Marques2022 ET

NBAS

Marques2022:177

chr2:
15427225-15427225

G

A

exonic

nonsynonymous SNV

NM_015909

c.C5110T

p.H1704Y

17.24

2.0E-4

Marques2022 ET

NBAS

Marques2022:180

chr2:
15432775-15432775

C

T

exonic

nonsynonymous SNV

NM_015909

c.G4913A

p.R1638H

18.16

0.003

Marques2022 ET

NBAS

5-0015-003

chr2:
15384441-15384441

A

G

intronic

De novo

-

Yuen2017 G

NBAS

Marques2022:179

chr2:
15432775-15432775

C

T

exonic

nonsynonymous SNV

NM_015909

c.G4913A

p.R1638H

18.16

0.003

Marques2022 ET

NBAS

Marques2022:190

chr2:
15542374-15542374

C

G

exonic

nonsynonymous SNV

NM_015909

c.G2989C

p.E997Q

16.89

3.299E-5

Marques2022 ET

NBAS

Marques2022:189

chr2:
15534391-15534391

G

A

exonic

nonsynonymous SNV

NM_015909

c.C3217T

p.R1073C

16.18

0.0042

Marques2022 ET

NBAS

Marques2022:192

chr2:
15608634-15608634

C

T

exonic

stopgain

NM_015909

c.G1749A

p.W583X

40.0

8.256E-6

Marques2022 ET

NBAS

Marques2022:191

chr2:
15601387-15601387

A

C

exonic

nonsynonymous SNV

NM_015909

c.T2277G

p.I759M

15.9

-

Marques2022 ET

NBAS

AU066104

chr2:
15578137-15578137

G

A

intronic

De novo

-

Yuen2017 G

NBAS

Marques2022:186

chr2:
15493821-15493821

A

T

exonic

nonsynonymous SNV

NM_015909

c.T3945A

p.S1315R

15.06

8.26E-6

Marques2022 ET

NBAS

2-1357-003

chr2:
15385999-15385999

G

C

intronic

De novo

-

Yuen2017 G

NBAS

Marques2022:185

chr2:
15470849-15470849

A

C

exonic

nonsynonymous SNV

NM_015909

c.T4220G

p.L1407W

16.88

-

Marques2022 ET

NBAS

Marques2022:188

chr2:
15534391-15534391

G

A

exonic

nonsynonymous SNV

NM_015909

c.C3217T

p.R1073C

16.18

0.0042

Marques2022 ET

NBAS

AU009805

chr2:
15378161-15378161

A

C

intronic

De novo

-

Yuen2017 G

NBAS

AU3263302

chr2:
15459049-15459049

C

A

intronic

De novo

-

Yuen2017 G

NBAS

Marques2022:187

chr2:
15496498-15496498

A

G

exonic

nonsynonymous SNV

NM_015909

c.T3860C

p.L1287S

13.75

2.474E-5

Marques2022 ET

NBAS

Marques2022:198

chr2:
15651461-15651461

C

A

exonic

nonsynonymous SNV

NM_015909

c.G760T

p.G254C

13.51

-

Marques2022 ET

NBAS

Marques2022:197

chr2:
15651412-15651412

C

T

exonic

nonsynonymous SNV

NM_015909

c.G809A

p.G270D

20.4

2.478E-5

Marques2022 ET

NBAS

Marques2022:200

chr2:
15676649-15676649

G

C

exonic

nonsynonymous SNV

NM_015909

c.C540G

p.S180R

9.575

1.0E-4

Marques2022 ET

NBAS

2-1267-003

chr2:
15534689-15534689

T

C

intronic

De novo

-

Yuen2017 G

NBAS

Marques2022:199

chr2:
15676570-15676570

G

A

exonic

stopgain

NM_015909

c.C619T

p.R207X

37.0

-

Marques2022 ET

NBAS

Marques2022:194

chr2:
15615936-15615936

A

G

exonic

nonsynonymous SNV

NM_015909

c.T1216C

p.C406R

11.92

4.949E-5

Marques2022 ET

NBAS

Marques2022:193

chr2:
15614282-15614282

G

A

exonic

nonsynonymous SNV

NM_015909

c.C1508T

p.A503V

23.9

-

Marques2022 ET

NBAS

Marques2022:196

chr2:
15618404-15618404

C

G

exonic

nonsynonymous SNV

NM_015909

c.G1093C

p.D365H

17.35

0.0088

Marques2022 ET

NBAS

547-09-112297

chr2:
15506799-15506799

C

G

exonic

De novo

nonsynonymous SNV

NM_015909

c.G3722C

p.R1241P

20.2

-

Fu2022 E
Satterstrom2020 E

NBAS

Marques2022:195

chr2:
15618404-15618404

C

G

exonic

nonsynonymous SNV

NM_015909

c.G1093C

p.D365H

17.35

0.0088

Marques2022 ET

NBAS

SP0002235

chr2:
15618415-15618415

T

A

splicing

De novo

splicing

24.4

-

Feliciano2019 E

NBAS

Marques2022:201

chr2:
15696945-15696945

T

C

splicing

18.17

1.652E-5

Marques2022 ET

NBAS

052-09-110820

chr2:
15613325-15613325

T

C

intronic

De novo

-

Satterstrom2020 E

NBAS

DEASD_1009_001

chr2:
15618354-15618354

G

C

exonic

De novo

nonsynonymous SNV

NM_015909

c.C1143G

p.I381M

11.41

8.327E-6

Fu2022 E
Satterstrom2020 E

NBAS

2-1241-003

chr2:
15513092-15513104

GCACACACACACA

GCACACACACA

intronic

De novo

-

Yuen2017 G

NBAS

AU003406

chr2:
15404963-15404963

C

T

intronic

De novo

-

Yuen2017 G

NBAS

1-0265-003

chr2:
15708069-15708069

G

A

intergenic

De novo

-

Yuen2017 G

NBAS

1-0978-003

chr2:
15583370-15583370

A

G

intronic

De novo

-

Yuen2017 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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