Variant Results

or

Results for "DMXL2"

Variant Events: 31

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

DMXL2

MSSNG00329-004

chr15:
51824102-51824102

C

T

intronic

De novo

-

Trost2022 G

DMXL2

AU4473301

chr15:
51913371-51913371

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DMXL2

SP0227387

chr15:
51837839-51837839

T

A

exonic

De novo

nonsynonymous SNV

NM_001174116
NM_001174117
NM_015263

c.A871T
c.A871T
c.A871T

p.I291F
p.I291F
p.I291F

1.783

-

Trost2022 G

DMXL2

PN400103

chr15:
51766634-51766636

CTG

C

exonic

Unknown

frameshift deletion

NM_001174117
NM_001174116
NM_015263

c.5207_5208del
c.7118_7119del
c.7115_7116del

p.A1736fs
p.A2373fs
p.A2372fs

-

4.507E-5

Leblond2019 E

DMXL2

1-0262-004A

chr15:
51801242-51801242

G

T

intronic

De novo

-

Trost2022 G

DMXL2

SP0047953

chr15:
51787314-51787314

C

T

exonic

De novo

nonsynonymous SNV

NM_001174117
NM_001174116
NM_015263

c.G2782A
c.G4690A
c.G4690A

p.E928K
p.E1564K
p.E1564K

36.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DMXL2

7-0470-003

chr15:
51803009-51803009

C

T

intronic

De novo

-

Trost2022 G

DMXL2

SSC02644

chr15:
51747337-51747337

G

A

intronic

De novo

-

Trost2022 G

DMXL2

1-0150-004

chr15:
51740202-51740202

A

AAT

UTR3

De novo

-

Trost2022 G
Yuen2017 G

DMXL2

1-1120-003

chr15:
51780631-51780631

T

G

intronic

De novo

-

Trost2022 G

DMXL2

MT_195.4

chr15:
51744886-51744886

C

G

intronic

De novo

-

Trost2022 G

DMXL2

78730

chr15:
51763583-51763583

G

C

exonic

De novo

nonsynonymous SNV

NM_001174117
NM_001174116
NM_015263

c.C5318G
c.C7229G
c.C7226G

p.S1773C
p.S2410C
p.S2409C

20.7

-

Fu2022 E
Trost2022 G

DMXL2

2-1548-003

chr15:
51745293-51745293

A

T

intronic

De novo

-

Trost2022 G

DMXL2

14077.p1

chr15:
51766611-51766611

C

T

exonic

De novo

nonsynonymous SNV

NM_001174117
NM_001174116
NM_015263

c.G5232A
c.G7143A
c.G7140A

p.M1744I
p.M2381I
p.M2380I

28.1

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

DMXL2

AU3858303

chr15:
51801309-51801309

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DMXL2

2-1644-003

chr15:
51874102-51874103

TG

AT

intronic

De novo

-

Trost2022 G

DMXL2

2-1198-003

chr15:
51904266-51904266

G

A

intronic

De novo

-

Trost2022 G

DMXL2

MSSNG00338-004

chr15:
51867531-51867531

G

C

intronic

De novo

-

Trost2022 G

DMXL2

5-5177-003

chr15:
51872343-51872343

C

A

intronic

De novo

-

Trost2022 G

DMXL2

AU2310301

chr15:
51841863-51841863

G

A

intronic

De novo

-

Trost2022 G

DMXL2

MT_30.3

chr15:
51858183-51858183

T

C

intronic

De novo

-

Trost2022 G

DMXL2

AU3777302

chr15:
51883648-51883648

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DMXL2

2-1605-003

chr15:
51948155-51948155

G

A

intergenic

De novo

-

Yuen2017 G

DMXL2

11085.p1

chr15:
51747337-51747337

G

A

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

DMXL2

14014.p1

chr15:
51763583-51763583

G

C

exonic

De novo

nonsynonymous SNV

NM_001174117
NM_001174116
NM_015263

c.C5318G
c.C7229G
c.C7226G

p.S1773C
p.S2410C
p.S2409C

20.7

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

DMXL2

AU046707

chr15:
51845564-51845570

GTATATA

GTA

intronic

De novo

-

Yuen2017 G

DMXL2

1-0455-004

chr15:
51961056-51961056

G

A

intergenic

De novo

-

Yuen2017 G

DMXL2

1-0558-003

chr15:
51826471-51826471

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DMXL2

SSC10270

chr15:
51766611-51766611

C

T

exonic

De novo

nonsynonymous SNV

NM_001174117
NM_001174116
NM_015263

c.G5232A
c.G7143A
c.G7140A

p.M1744I
p.M2381I
p.M2380I

28.1

-

Fu2022 E
Lim2017 E
Trost2022 G

DMXL2

AU3885305

chr15:
51827494-51827494

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DMXL2

11942.p1

chr15:
51791966-51791966

T

C

exonic

Mosaic

nonsynonymous SNV

NM_001174116
NM_015263

c.A3455G
c.A3455G

p.D1152G
p.D1152G

16.11

-

Dou2017 E
Krupp2017 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