Variant Results

or

Results for "PDXDC1"

Variant Events: 17

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

PDXDC1

AU045010

chr16:
15236739-15236739

C

T

intergenic

De novo

-

Yuen2017 G

PDXDC1

AU2711303

chr16:
15240440-15240440

C

T

intergenic

De novo

-

Yuen2017 G

PDXDC1

AU056803

chr16:
15164593-15164593

C

T

intronic

De novo

-

Trost2022 G
Trost2022 G
Yuen2017 G

PDXDC1

AU4056301

chr16:
15244492-15244492

C

G

intergenic

De novo

-

Yuen2017 G

PDXDC1

AU4237302

chr16:
15233631-15233631

C

A

downstream

De novo

-

Yuen2017 G

PDXDC1

AU4467302

chr16:
15244288-15244288

G

A

intergenic

De novo

-

Yuen2017 G

PDXDC1

SSC02680

chr16:
15112789-15112789

G

A

exonic

De novo

synonymous SNV

NM_001285444
NM_001285445
NM_001285448
NM_001285450
NM_001285447
NM_001285449
NM_015027

c.G975A
c.G972A
c.G783A
c.G987A
c.G1011A
c.G1056A
c.G1056A

p.G325G
p.G324G
p.G261G
p.G329G
p.G337G
p.G352G
p.G352G

-

Fu2022 E
Lim2017 E
Trost2022 G

PDXDC1

Lim2017:10520

chr16:
15103581-15103581

G

A

exonic

De novo

nonsynonymous SNV

NM_001285444
NM_001285445
NM_001285448
NM_001285450
NM_001285447
NM_001285449
NM_015027

c.G611A
c.G608A
c.G419A
c.G623A
c.G647A
c.G692A
c.G692A

p.R204Q
p.R203Q
p.R140Q
p.R208Q
p.R216Q
p.R231Q
p.R231Q

10.88

4.127E-5

Lim2017 E

PDXDC1

Lim2017:5417

chr16:
15122873-15122873

A

G

exonic

De novo

nonsynonymous SNV

NM_001285450

c.A1274G

p.H425R

9.674

1.15E-5

Lim2017 E

PDXDC1

SP0023249

chr16:
15127322-15127322

G

A

intronic

De novo

-

Fu2022 E

PDXDC1

2-1497-003

chr16:
15094030-15094030

G

A

intronic

De novo

-

Yuen2017 G

PDXDC1

3-0437-000

chr16:
15096025-15096025

T

C

intronic

De novo

-

Yuen2016 G

PDXDC1

10520

chr16:
15103581-15103581

G

A

exonic

De novo

nonsynonymous SNV

NM_001285444
NM_001285445
NM_001285448
NM_001285450
NM_001285447
NM_001285449
NM_015027

c.G611A
c.G608A
c.G419A
c.G623A
c.G647A
c.G692A
c.G692A

p.R204Q
p.R203Q
p.R140Q
p.R208Q
p.R216Q
p.R231Q
p.R231Q

10.88

4.127E-5

Fu2022 E

PDXDC1

11468.p1

chr16:
15112789-15112789

G

A

exonic

De novo

synonymous SNV

NM_001285444
NM_001285445
NM_001285448
NM_001285450
NM_001285447
NM_001285449
NM_015027

c.G975A
c.G972A
c.G783A
c.G987A
c.G1011A
c.G1056A
c.G1056A

p.G325G
p.G324G
p.G261G
p.G329G
p.G337G
p.G352G
p.G352G

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

PDXDC1

Chen2017:43

chr16:
15112743-15112743

G

A

exonic

De novo

nonsynonymous SNV

NM_001285444
NM_001285445
NM_001285448
NM_001285450
NM_001285447
NM_001285449
NM_015027

c.G929A
c.G926A
c.G737A
c.G941A
c.G965A
c.G1010A
c.G1010A

p.R310H
p.R309H
p.R246H
p.R314H
p.R322H
p.R337H
p.R337H

27.6

1.0E-4

Chen2017 E

PDXDC1

DEASD_4032_001

chr16:
15120661-15120661

T

G

intronic

De novo

-

Fu2022 E

PDXDC1

5417

chr16:
15122873-15122873

A

G

exonic

De novo

nonsynonymous SNV

NM_001285450

c.A1274G

p.H425R

9.674

1.15E-5

Fu2022 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
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