Variant Results

or

Results for "PCNT"

Variant Events: 42

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

PCNT

AU3911302

chr21:
47796381-47796381

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCNT

330-04-101166

chr21:
47832927-47832927

G

GCGAGGTCCCCCCGGGAGAGGCTGGACATGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCA

intronic

De novo

-

8.58E-6

Satterstrom2020 E
Trost2022 G

PCNT

AU026412

chr21:
47852515-47852515

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCNT

SP0048783

chr21:
47836716-47836716

C

T

exonic

De novo

nonsynonymous SNV

NM_001315529
NM_006031

c.C6530T
c.C6884T

p.P2177L
p.P2295L

10.83

6.333E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

PCNT

SP0027103

chr21:
47845738-47845738

G

A

intronic

De novo

-

2.0E-4

Fu2022 E
Zhou2022 GE

PCNT

AU3889305

chr21:
47854149-47854149

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCNT

2-1397-003

chr21:
47767508-47767508

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCNT

SP0073280

chr21:
47805919-47805919

G

A

intronic

De novo

-

2.485E-5

Fu2022 E
Trost2022 G

PCNT

11230.p1

chr21:
47754472-47754472

T

A

exonic

De novo

synonymous SNV

NM_001315529
NM_006031

c.T75A
c.T429A

p.R25R
p.R143R

-

Satterstrom2020 E
Trost2022 G

PCNT

SP0062867

chr21:
47817957-47817957

C

T

exonic

De novo

synonymous SNV

NM_001315529
NM_006031

c.C4122T
c.C4476T

p.R1374R
p.R1492R

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PCNT

2-1337-003

chr21:
47814521-47814521

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PCNT

SP0148272

chr21:
47851256-47851256

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G

PCNT

SP0040532

chr21:
47848553-47848553

C

T

intronic

De novo

-

Fu2022 E

PCNT

13880.p1

chr21:
47811252-47811252

G

T

exonic

De novo

nonsynonymous SNV

NM_001315529
NM_006031

c.G3823T
c.G4177T

p.G1275W
p.G1393W

12.25

4.879E-5

Satterstrom2020 E
Zhou2022 GE

PCNT

2-0182-003

chr21:
47779441-47779441

A

G

intronic

De novo

-

Yuen2017 G

PCNT

389-05-103540

chr21:
47863897-47863897

G

T

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

PCNT

SP0093563

chr21:
47744815-47744815

T

TA

UTR5

De novo

-

Fu2022 E
Trost2022 G

PCNT

13863.p1

chr21:
47754471-47754471

G

A

exonic

De novo

nonsynonymous SNV

NM_001315529
NM_006031

c.G74A
c.G428A

p.R25H
p.R143H

6.506

4.636E-5

Iossifov2014 E
Kosmicki2017 E

PCNT

13118.p1

chr21:
47860001-47860001

G

A

exonic

De novo

synonymous SNV

NM_001315529
NM_006031

c.G8688A
c.G9279A

p.S2896S
p.S3093S

0.149

3.0E-4

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

PCNT

1-0325-003

chr21:
47819246-47819246

T

C

intronic

De novo

-

Trost2022 G

PCNT

14-613

chr21:
47800432-47800432

C

A

intronic

De novo

-

Trost2022 G

PCNT

AU2794301

chr21:
47791136-47791136

T

C

intronic

De novo

-

Trost2022 G

PCNT

1-0299-004

chr21:
47778863-47778866

CCGT

ACAC

intronic

De novo

-

Trost2022 G

PCNT

1-0299-004

chr21:
47778851-47778854

GAAG

AATT

intronic

De novo

-

Trost2022 G

PCNT

SSC09156

chr21:
47811252-47811252

G

T

exonic

De novo

nonsynonymous SNV

NM_001315529
NM_006031

c.G3823T
c.G4177T

p.G1275W
p.G1393W

12.25

4.879E-5

Fu2022 E
Lim2017 E
Trost2022 G

PCNT

SP0173359

chr21:
47768977-47768977

C

T

exonic

De novo

nonsynonymous SNV

NM_001315529
NM_006031

c.C730T
c.C1084T

p.R244C
p.R362C

14.58

2.486E-5

Trost2022 G

PCNT

7-0320-003

chr21:
47745079-47745079

C

T

UTR5

De novo

-

Trost2022 G

PCNT

1-0863-003

chr21:
47816024-47816024

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PCNT

SP0103498

chr21:
47864595-47864599

ATTTG

A

intronic

De novo

-

8.31E-6

Trost2022 G

PCNT

35938

chr21:
47860001-47860001

G

A

exonic

De novo

synonymous SNV

NM_001315529
NM_006031

c.G8688A
c.G9279A

p.S2896S
p.S3093S

0.149

3.0E-4

Trost2022 G

PCNT

3-0711-000A

chr21:
47857540-47857540

A

G

intronic

De novo

-

Trost2022 G

PCNT

REACH000228

chr21:
47856685-47856685

A

G

intronic

De novo

-

Trost2022 G

PCNT

MSSNG00127-003

chr21:
47849515-47849515

T

A

intronic

De novo

-

Trost2022 G

PCNT

REACH000405

chr21:
47819246-47819246

T

C

intronic

De novo

-

Trost2022 G

PCNT

1-0452-003

chr21:
47823411-47823421

TTGTGTGTGTG

TTGTGTGTGTGTG

intronic

De novo

-

Yuen2017 G

PCNT

2-1179-003

chr21:
47819246-47819246

T

C

intronic

De novo

-

Trost2022 G

PCNT

14-591

chr21:
47819246-47819246

T

C

intronic

De novo

-

Trost2022 G

PCNT

111308

chr21:
47860894-47860894

A

G

exonic

nonsynonymous SNV

NM_001315529
NM_006031

c.A8929G
c.A9520G

p.I2977V
p.I3174V

26.3

-

Woodbury-Smith2022 E

PCNT

1-0412-003

chr21:
47779594-47779594

G

A

intronic

De novo

-

Yuen2017 G

PCNT

SSC07669

chr21:
47858070-47858070

C

T

intronic

De novo

-

Fu2022 E

PCNT

2-1107-003

chr21:
47853565-47853565

T

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PCNT

7-0189-003

chr21:
47866520-47866520

C

A

downstream

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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