Variant Results

or

Results for "TATDN2"

Variant Events: 12

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

TATDN2

DEASD_0149_001

chr3:
10301993-10301993

G

A

exonic

De novo

nonsynonymous SNV

NM_014760

c.G587A

p.G196E

19.59

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TATDN2

AU3875301

chr3:
10304369-10304369

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TATDN2

2-1299-003

chr3:
10311776-10311776

G

A

intronic

De novo

-

5.0E-4

Trost2022 G
Yuen2017 G

TATDN2

12741.p1

chr3:
10302080-10302080

C

G

exonic

De novo

nonsynonymous SNV

NM_014760

c.C674G

p.A225G

11.21

8.255E-6

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

TATDN2

iHART3111

chr3:
10318105-10318105

C

T

exonic

Paternal

stopgain

NM_014760

c.C1894T

p.R632X

39.0

-

Ruzzo2019 G

TATDN2

mAGRE3111

chr3:
10318105-10318105

C

T

exonic

Paternal

stopgain

NM_014760

c.C1894T

p.R632X

39.0

-

Cirnigliaro2023 G

TATDN2

6300

chr3:
10302080-10302080

C

G

exonic

De novo

nonsynonymous SNV

NM_014760

c.C674G

p.A225G

11.21

8.255E-6

Fu2022 E
Trost2022 G

TATDN2

SP0043805

chr3:
10320181-10320181

A

T

intronic

De novo

-

Trost2022 G

TATDN2

SP0041996

chr3:
10320187-10320187

A

T

intronic

De novo

-

Trost2022 G

TATDN2

Lim2017:6300

chr3:
10302080-10302080

C

G

exonic

De novo

nonsynonymous SNV

NM_014760

c.C674G

p.A225G

11.21

8.255E-6

Lim2017 E

TATDN2

5-5069-003

chr3:
10311193-10311193

G

T

intronic

De novo

-

Trost2022 G

TATDN2

SP0047169

chr3:
10320167-10320167

A

T

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
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