Variant Results

or

or

Results for "PCM1"

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

PCM1

7-0055-003

chr8:
17804470-17804470

T

C

intronic

De novo

-

-

Yuen2017 G

PCM1

2-1549-003

chr8:
17826138-17826153

AATATATATATATATA

AATATATATATATA

intronic

De novo

-

-

Yuen2017 G

PCM1

SSC02441

chr8:
17823633-17823633

A

G

exonic

De novo

nonsynonymous SNV

NM_001315507
NM_001315508
NM_006197

c.A2981G
c.A2984G
c.A2981G

p.E994G
p.E995G
p.E994G

32.0

-

Fu2022 E
Lim2017 E

PCM1

AU4164301

chr8:
17803163-17803163

C

T

intronic

De novo

-

-

Yuen2017 G

PCM1

11111.p1

chr8:
17823633-17823633

A

G

exonic

De novo

nonsynonymous SNV

NM_001315507
NM_001315508
NM_006197

c.A2981G
c.A2984G
c.A2981G

p.E994G
p.E995G
p.E994G

32.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

PCM1

iHART3122

chr8:
17883148-17883150

TGA

T

exonic

Maternal

frameshift deletion

NM_001315508
NM_001315507
NM_006197

c.5539_5540del
c.6007_6008del
c.6031_6032del

p.E1847fs
p.E2003fs
p.E2011fs

-

Ruzzo2019 G

PCM1

iHART3123

chr8:
17883148-17883150

TGA

T

exonic

Maternal

frameshift deletion

NM_001315508
NM_001315507
NM_006197

c.5539_5540del
c.6007_6008del
c.6031_6032del

p.E1847fs
p.E2003fs
p.E2011fs

-

Ruzzo2019 G

PCM1

AU2075302

chr8:
17844223-17844223

G

A

intronic

De novo

-

-

Yuen2017 G

PCM1

iHART1884

chr8:
17813113-17813113

C

T

exonic

Maternal

stopgain

NM_001315507
NM_001315508
NM_006197

c.C1423T
c.C1423T
c.C1423T

p.Q475X
p.Q475X
p.Q475X

36.0

-

Ruzzo2019 G

PCM1

iHART1883

chr8:
17813113-17813113

C

T

exonic

Maternal

stopgain

NM_001315507
NM_001315508
NM_006197

c.C1423T
c.C1423T
c.C1423T

p.Q475X
p.Q475X
p.Q475X

36.0

-

Ruzzo2019 G

PCM1

12460.p1

chr8:
17782220-17782220

A

G

splicing

De novo

splicing

-

-

Satterstrom2020 E
Turner2017 G
Wilfert2021 G

PCM1

1-0261-004

chr8:
17891017-17891017

A

T

intergenic

De novo

-

-

Yuen2017 G

PCM1

1-0571-003

chr8:
17793809-17793809

C

G

intronic

De novo

-

-

Yuen2017 G

PCM1

2-1265-003

chr8:
17890495-17890495

T

G

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 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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