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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     7-0055-003chr8:
17804470-17804470
TCintronicDe novo--Yuen2017 G
PCM1     2-1549-003chr8:
17826138-17826153
AATATATATATATATAAATATATATATATAintronicDe novo--Yuen2017 G
PCM1     SSC02441chr8:
17823633-17823633
AGexonicDe novononsynonymous SNVNM_001315507
NM_001315508
NM_006197
c.A2981G
c.A2984G
c.A2981G
p.E994G
p.E995G
p.E994G
32.0-Lim2017 E
PCM1     AU4164301chr8:
17803163-17803163
CTintronicDe novo--Yuen2017 G
PCM1     11111.p1chr8:
17823633-17823633
AGexonicDe novononsynonymous SNVNM_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     iHART3122chr8:
17883148-17883150
TGATexonicMaternalframeshift deletionNM_001315508
NM_001315507
NM_006197
c.5539_5540del
c.6007_6008del
c.6031_6032del
p.E1847fs
p.E2003fs
p.E2011fs
-3.0E-4Ruzzo2019 G
PCM1     iHART3123chr8:
17883148-17883150
TGATexonicMaternalframeshift deletionNM_001315508
NM_001315507
NM_006197
c.5539_5540del
c.6007_6008del
c.6031_6032del
p.E1847fs
p.E2003fs
p.E2011fs
-3.0E-4Ruzzo2019 G
PCM1     AU2075302chr8:
17844223-17844223
GAintronicDe novo--Yuen2017 G
PCM1     iHART1884chr8:
17813113-17813113
CTexonicMaternalstopgainNM_001315507
NM_001315508
NM_006197
c.C1423T
c.C1423T
c.C1423T
p.Q475X
p.Q475X
p.Q475X
36.0-Ruzzo2019 G
PCM1     iHART1883chr8:
17813113-17813113
CTexonicMaternalstopgainNM_001315507
NM_001315508
NM_006197
c.C1423T
c.C1423T
c.C1423T
p.Q475X
p.Q475X
p.Q475X
36.0-Ruzzo2019 G
PCM1     12460.p1chr8:
17782220-17782220
AGsplicingDe novosplicing--Satterstrom2020 E
Turner2017 G
Wilfert2021 G
PCM1     1-0261-004chr8:
17891017-17891017
ATintergenicDe novo--Yuen2017 G
PCM1     1-0571-003chr8:
17793809-17793809
CGintronicDe novo--Yuen2017 G
PCM1     2-1265-003chr8:
17890495-17890495
TGintergenicDe novo--Yuen2016 G
Yuen2017 G
Source Variant Information

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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 notesView
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