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Results for "CPXM2"

Variant Events: 16

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
CPXM2     AU1848302chr10:
125564445-125564445
TCintronicDe novo--Yuen2017 G
CPXM2     7-0140-003chr10:
125589671-125589676
CATATACATATATAintronicDe novo--Yuen2017 G
CPXM2     1-0232-004chr10:
125560815-125560815
GAintronicDe novo--Yuen2017 G
CPXM2     11194.p1chr10:
125553648-125553648
CTintronicDe novo--Turner2016 G
CPXM2     3-0396-000chr10:
125673697-125673697
CTintergenicDe novo--Yuen2016 G
CPXM2     AU1223303chr10:
125749832-125749832
TCintergenicDe novo--Yuen2017 G
CPXM2     AU3695303chr10:
125737872-125737872
GTintergenicDe novo--Yuen2017 G
CPXM2     045-06-105599chr10:
125528006-125528006
CAintronicDe novo--Satterstrom2020 E
CPXM2     1-0352-005chr10:
125685004-125685004
TCintergenicDe novo--Yuen2017 G
CPXM2     2-1322-004chr10:
125518602-125518602
GAintronicDe novo--Yuen2017 G
CPXM2     1-0006-003chr10:
125622299-125622299
AGintronicDe novo--Yuen2017 G
CPXM2     iHART2635chr10:
125516768-125516768
CTexonicPaternalstopgainNM_198148c.G1878Ap.W626X49.08.239E-6Ruzzo2019 G
CPXM2     JASD_Fam0016chr10:
125521594-125521594
GAexonicDe novononsynonymous SNVNM_198148c.C1571Tp.A524V33.0-Takata2018 E
CPXM2     2-0296-003chr10:
125650669-125650669
TGintronicDe novo--Yuen2017 G
CPXM2     7-0255-003chr10:
125626716-125626716
AGintronicDe novo--Yuen2017 G
CPXM2     02C10130chr10:
125558602-125558602
GCintronicDe novo-1.649E-5Satterstrom2020 E
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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