Variant Results

or

Results for "DNM2"

Variant Events: 19

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

DNM2

11676.p1

chr19:
10904539-10904539

C

A

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

DNM2

7-0024-003

chr19:
10937307-10937307

A

G

intronic

De novo

-

Yuen2017 G

DNM2

1-0051-004

chr19:
10937307-10937307

A

G

intronic

De novo

-

Yuen2017 G

DNM2

1-0401-003

chr19:
10937307-10937307

A

G

intronic

De novo

-

Yuen2017 G

DNM2

SJD_50

chr19:
10906796-10906796

A

C

exonic

Paternal

nonsynonymous SNV

NM_001005360
NM_001190716
NM_004945

c.A1256C
c.A1256C
c.A1256C

p.K419T
p.K419T
p.K419T

24.9

-

Toma2013 E

DNM2

SP0083686

chr19:
10883176-10883176

G

A

exonic

De novo

nonsynonymous SNV

NM_001005360
NM_001005361
NM_001005362
NM_001190716
NM_004945

c.G257A
c.G257A
c.G257A
c.G257A
c.G257A

p.C86Y
p.C86Y
p.C86Y
p.C86Y
p.C86Y

29.4

-

Antaki2022 GE
Fu2022 E

DNM2

SSC02330

chr19:
10904539-10904539

C

A

intronic

De novo

-

Fu2022 E

DNM2

2-1629-003

chr19:
10855853-10855853

C

T

intronic

De novo

-

Yuen2017 G

DNM2

AU2433303

chr19:
10858969-10858969

C

T

intronic

De novo

-

Yuen2017 G

DNM2

Torti2019:7

chr19:
10922947-10922947

G

T

exonic

Unknown

nonsynonymous SNV

NM_001005362
NM_004945
NM_001005360
NM_001005361
NM_001190716

c.G1553T
c.G1553T
c.G1565T
c.G1565T
c.G1565T

p.R518L
p.R518L
p.R522L
p.R522L
p.R522L

34.0

-

Torti2019 T

DNM2

5-0033-004

chr19:
10937307-10937307

A

G

intronic

De novo

-

Yuen2017 G

DNM2

1-0446-003

chr19:
10937307-10937307

A

G

intronic

De novo

-

Yuen2017 G

DNM2

1-0986-003

chr19:
10893647-10893647

G

A

exonic

De novo

nonsynonymous SNV

NM_001005360
NM_001005361
NM_001005362
NM_001190716
NM_004945

c.G700A
c.G700A
c.G700A
c.G700A
c.G700A

p.V234M
p.V234M
p.V234M
p.V234M
p.V234M

26.8

6.651E-5

Yuen2017 G

DNM2

SP0005182

chr19:
10940925-10940925

C

T

exonic

De novo

nonsynonymous SNV

NM_001005362
NM_004945
NM_001005360
NM_001005361
NM_001190716

c.C2402T
c.C2402T
c.C2414T
c.C2414T
c.C2414T

p.S801L
p.S801L
p.S805L
p.S805L
p.S805L

8.697

1.66E-5

Fu2022 E

DNM2

1-0971-003

chr19:
10874670-10874670

G

A

intronic

De novo

-

Yuen2017 G

DNM2

SP0067304

chr19:
10939837-10939837

C

A

exonic

De novo

synonymous SNV

NM_001005362
NM_004945
NM_001005360
NM_001005361
NM_001190716

c.C2172A
c.C2172A
c.C2184A
c.C2184A
c.C2184A

p.A724A
p.A724A
p.A728A
p.A728A
p.A728A

-

Fu2022 E

DNM2

12498.p1

chr19:
10842480-10842480

C

T

intronic

De novo

-

Turner2016 G

DNM2

SP0050229

chr19:
10906059-10906059

C

T

exonic

De novo

synonymous SNV

NM_001005360
NM_001005361
NM_001005362
NM_001190716
NM_004945

c.C1140T
c.C1140T
c.C1140T
c.C1140T
c.C1140T

p.D380D
p.D380D
p.D380D
p.D380D
p.D380D

-

8.237E-6

Fu2022 E

DNM2

2-0214-003

chr19:
10937307-10937307

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
	More