Variant Results

or

or

Results for "THUMPD2"

Variant Events: 22

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

THUMPD2

1-0998-003

chr2:
40056339-40056339

G

A

intergenic

De novo

-

-

Yuen2017 G

THUMPD2

1-0756-004

chr2:
40115547-40115547

C

G

intergenic

De novo

-

-

Yuen2017 G

THUMPD2

1-0265-004

chr2:
39994777-39994777

C

CAGATAAGA

intronic

De novo

-

-

Yuen2017 G

THUMPD2

2-0057-004

chr2:
39976309-39976315

TGCATAA

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

THUMPD2

mAGRE2171

chr2:
39995563-39995563

C

T

splicing

Maternal

splicing

17.57

Cirnigliaro2023 G

THUMPD2

5-0055-003

chr2:
39994784-39994784

G

GA

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

THUMPD2

12123.p1

chr2:
39993279-39993279

G

T

intronic

De novo

-

-

Iossifov2014 E
Kosmicki2017 E

THUMPD2

AU073003

chr2:
40085546-40085546

A

G

intergenic

De novo

-

-

Yuen2017 G

THUMPD2

SP0058138

chr2:
39964129-39964129

T

C

exonic

De novo

nonsynonymous SNV

NM_025264

c.A1258G

p.K420E

1.607

-

Fu2022 E
Trost2022 G
Zhou2022 GE

THUMPD2

A13

chr2:
39967780-39967780

G

A

intronic

De novo

-

-

Wu2018 G

THUMPD2

AU066403

chr2:
40020198-40020198

A

G

intergenic

De novo

-

-

Yuen2017 G

THUMPD2

AU017304

chr2:
40084125-40084125

C

A

intergenic

De novo

-

-

Yuen2017 G

THUMPD2

13069.p1

chr2:
40047126-40047127

TG

AA

intergenic

De novo

-

-

Turner2016 G

THUMPD2

iHART2171

chr2:
39995563-39995563

C

T

splicing

Maternal

splicing

17.57

Ruzzo2019 G

THUMPD2

REACH000655

chr2:
39972104-39972104

A

G

intronic

De novo

-

-

Trost2022 G

THUMPD2

MSSNG00416-003

chr2:
39969036-39969036

T

C

intronic

De novo

-

-

Trost2022 G

THUMPD2

2-1086-003

chr2:
40011457-40011457

A

G

intergenic

De novo

-

-

Yuen2017 G

THUMPD2

1-0265-003

chr2:
39994777-39994777

C

CAGATAAGA

intronic

De novo

-

-

Yuen2017 G

THUMPD2

2-0057-003

chr2:
39976309-39976315

TGCATAA

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

THUMPD2

MSSNG00250-003

chr2:
40004341-40004341

T

C

intronic

De novo

-

-

Trost2022 G

THUMPD2

AU4032307

chr2:
39996633-39996633

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

THUMPD2

5-1012-003

chr2:
39992839-39992839

C

A

intronic

De novo

-

-

Trost2022 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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