Variant Results

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Results for "DAAM2"

Variant Events: 25

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

DAAM2

2-0003-003

chr6:
39812957-39812957

T

TATACAACCTAAACATAC

intronic

De novo

-

-

Yuen2017 G

DAAM2

2-1480-003

chr6:
39836940-39836940

C

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

DAAM2

AU2215302

chr6:
39803934-39803934

C

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DAAM2

2-0298-003

chr6:
39813110-39813110

T

TATAGTCATA

intronic

De novo

-

-

Yuen2017 G

DAAM2

PN400343

chr6:
39846320-39846320

C

T

exonic

Unknown

nonsynonymous SNV

NM_001201427
NM_015345

c.C1501T
c.C1501T

p.R501W
p.R501W

20.9

-

Leblond2019 E

DAAM2

2-0007-004

chr6:
39869186-39869186

G

T

exonic

De novo

nonsynonymous SNV

NM_001201427
NM_015345

c.G2920T
c.G2917T

p.D974Y
p.D973Y

29.7

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

DAAM2

A1392B

chr6:
39869121-39869121

T

C

exonic

De novo

nonsynonymous SNV

NM_001201427
NM_015345

c.T2855C
c.T2852C

p.M952T
p.M951T

14.25

-

Fu2022 E

DAAM2

1-0150-004

chr6:
39813202-39813202

C

CA

intronic

De novo

-

-

Yuen2017 G

DAAM2

F6097-1

chr6:
39869710-39869710

T

G

exonic

De novo

nonsynonymous SNV

NM_001201427
NM_015345

c.T3104G
c.T3101G

p.V1035G
p.V1034G

24.6

-

Fu2022 E

DAAM2

2-1562-004

chr6:
39812807-39812807

T

TC

intronic

De novo

-

-

Yuen2017 G

DAAM2

2-0305-004

chr6:
39847736-39847736

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DAAM2

PN400457

chr6:
39851798-39851798

G

T

exonic

Unknown

nonsynonymous SNV

NM_001201427
NM_015345

c.G1906T
c.G1906T

p.D636Y
p.D636Y

31.0

Leblond2019 E

DAAM2

MSSNG00389-003

chr6:
39774537-39774537

A

G

intronic

De novo

-

-

Trost2022 G

DAAM2

1-0526-003

chr6:
39812807-39812807

T

TCACACATACATACCATATC

intronic

De novo

-

-

Yuen2017 G

DAAM2

08C76519

chr6:
39838132-39838132

G

A

exonic

De novo

nonsynonymous SNV

NM_001201427
NM_015345

c.G890A
c.G890A

p.R297H
p.R297H

36.0

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DAAM2

MSSNG00127-004

chr6:
39845442-39845442

T

G

intronic

De novo

-

-

Trost2022 G

DAAM2

2-0304-003

chr6:
39766445-39766445

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DAAM2

MT_186.4

chr6:
39855106-39855106

C

T

intronic

De novo

-

-

Trost2022 G

DAAM2

1-0004-003

chr6:
39813279-39813282

CAAG

AGCA

intronic

De novo

-

-

Trost2022 G

DAAM2

7-0191-003

chr6:
39813346-39813347

AA

CACACACACTGCACATACTGCACAT

intronic

De novo

-

-

Trost2022 G

DAAM2

14-613

chr6:
39795430-39795430

G

A

intronic

De novo

-

-

Trost2022 G

DAAM2

5-5123-003

chr6:
39806968-39806968

G

GA

intronic

De novo

-

-

Trost2022 G

DAAM2

2-1315-003

chr6:
39782494-39782494

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

DAAM2

AU051504

chr6:
39765425-39765425

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DAAM2

2-0297-003

chr6:
39777134-39777134

G

C

intronic

De novo

-

-

Trost2022 G
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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