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Results for "CPXM2"

Variant Events: 29

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--Trost2022 G
Yuen2017 G
CPXM2     MT_165.3chr10:
125575322-125575322
GTintronicDe novo--Trost2022 G
CPXM2     5-2015-003chr10:
125580713-125580713
CTintronicDe novo--Trost2022 G
CPXM2     7-0140-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
CPXM2     4-0054-003chr10:
125548139-125548139
GAintronicDe novo--Trost2022 G
CPXM2     1-0232-004chr10:
125560815-125560815
GAintronicDe novo--Trost2022 G
Yuen2017 G
CPXM2     MT_165.3chr10:
125571595-125571595
GTintronicDe novo--Trost2022 G
CPXM2     3-0396-000chr10:
125673697-125673697
CTintergenicDe novo--Yuen2016 G
CPXM2     AU1223303chr10:
125749832-125749832
TCintergenicDe novo--Yuen2017 G
CPXM2     5-5146-003chr10:
125640084-125640084
AGintronicDe novo--Trost2022 G
CPXM2     MSSNG00406-003chr10:
125612831-125612831
GAintronicDe novo--Trost2022 G
CPXM2     2-1097-003chr10:
125621740-125621740
GAintronicDe novo--Trost2022 G
CPXM2     REACH000724chr10:
125594246-125594246
TCintronicDe novo--Trost2022 G
CPXM2     7-0394-003chr10:
125607986-125607986
CTintronicDe novo--Trost2022 G
CPXM2     mAGRE4995chr10:
125506294-125506294
GAexonicPaternalstopgainNM_198148c.C2257Tp.R753X39.08.295E-6Cirnigliaro2023 G
CPXM2     mAGRE4994chr10:
125506294-125506294
GAexonicPaternalstopgainNM_198148c.C2257Tp.R753X39.08.295E-6Cirnigliaro2023 G
CPXM2     JASD_Fam0016chr10:
125521594-125521594
GAexonicDe novononsynonymous SNVNM_198148c.C1571Tp.A524V33.0-Takata2018 E
CPXM2     7-0255-003chr10:
125626716-125626716
AGintronicDe novo--Trost2022 G
Yuen2017 G
CPXM2     mAGRE6025chr10:
125528146-125528146
CAexonicPaternalstopgainNM_198148c.G1195Tp.E399X39.02.488E-5Cirnigliaro2023 G
CPXM2     mAGRE2635chr10:
125516768-125516768
CTexonicPaternalstopgainNM_198148c.G1878Ap.W626X49.08.239E-6Cirnigliaro2023 G
CPXM2     11194.p1chr10:
125553648-125553648
CTintronicDe novo--Turner2016 G
CPXM2     AU3695303chr10:
125737872-125737872
GTintergenicDe novo--Yuen2017 G
CPXM2     045-06-105599chr10:
125528006-125528006
CAintronicDe novo--Satterstrom2020 E
Trost2022 G
CPXM2     1-0352-005chr10:
125685004-125685004
TCintergenicDe novo--Yuen2017 G
CPXM2     2-1322-004chr10:
125518602-125518602
GAintronicDe novo--Trost2022 G
Yuen2017 G
CPXM2     1-0006-003chr10:
125622299-125622299
AGintronicDe novo--Trost2022 G
Yuen2017 G
CPXM2     iHART2635chr10:
125516768-125516768
CTexonicPaternalstopgainNM_198148c.G1878Ap.W626X49.08.239E-6Ruzzo2019 G
CPXM2     2-0296-003chr10:
125650669-125650669
TGintronicDe novo--Trost2022 G
Yuen2017 G
CPXM2     02C10130chr10:
125558602-125558602
GCintronicDe novo-1.649E-5Satterstrom2020 E
Trost2022 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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