Variant Results

or

Results for "PPCS"

Variant Events: 14

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

PPCS

AU1987304

chr1:
42927578-42927578

G

A

intronic

De novo

-

Trost2022 G
Trost2022 G
Yuen2017 G

PPCS

G01-GEA-328_HI

chr1:
42922220-42922220

C

T

UTR5

De novo

-

2.0E-4

Satterstrom2020 E
Trost2022 G

PPCS

2-1529-003

chr1:
42956085-42956085

T

A

intergenic

De novo

-

Trost2022 G
Yuen2017 G

PPCS

mAGRE5651

chr1:
42964488-42964488

G

T

intergenic

Paternal

-

Cirnigliaro2023 G

PPCS

mAGRE5650

chr1:
42964488-42964488

G

T

intergenic

Paternal

-

Cirnigliaro2023 G

PPCS

2-0109-003

chr1:
42996732-42996732

A

G

intergenic

De novo

-

Trost2022 G
Yuen2017 G

PPCS

mAGRE5109

chr1:
42948333-42948333

G

C

intergenic

Maternal

-

Cirnigliaro2023 G

PPCS

SP0005315

chr1:
42948425-42948425

A

C

intergenic

De novo

-

Fu2022 E

PPCS

SP0027448

chr1:
42922450-42922451

GC

G

exonic

De novo

frameshift deletion

NM_001287511
NM_024664

c.215delC
c.215delC

p.A72fs
p.A72fs

-

Feliciano2019 E
Trost2022 G
Zhou2022 GE

PPCS

P1466

chr1:
42925473-42925473

C

A

exonic

De novo

nonsynonymous SNV

NM_001287510
NM_001077447
NM_001287506
NM_001287507
NM_001287508
NM_001287509
NM_024664

c.C293A
c.C293A
c.C293A
c.C194A
c.C293A
c.C293A
c.C812A

p.T98N
p.T98N
p.T98N
p.T65N
p.T98N
p.T98N
p.T271N

22.1

-

Hashimoto2016 E

PPCS

SP0055732

chr1:
42922836-42922836

A

C

UTR5

De novo

-

Fu2022 E

PPCS

10C100480

chr1:
42922346-42922346

T

G

exonic

De novo

nonsynonymous SNV

NM_001287511
NM_024664

c.T110G
c.T110G

p.V37G
p.V37G

23.3

9.0E-4

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PPCS

5-5170-003

chr1:
42939810-42939810

A

G

downstream

De novo

-

Trost2022 G
Trost2022 G

PPCS

SP0093553

chr1:
42964535-42964535

A

C

intergenic

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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