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Results for "CMTM4"

Variant Events: 19

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
CMTM4     AU4007302chr16:
66659739-66659739
GAintronicDe novo--Trost2022 G
Yuen2017 G
CMTM4     7-0102-003chr16:
66722320-66722320
AGintronicDe novo--Trost2022 G
Yuen2017 G
CMTM4     1-0289-004chr16:
66678246-66678246
TCintronicDe novo--Trost2022 G
Yuen2017 G
CMTM4     SP0074212chr16:
66654433-66654433
GAUTR3De novo--Fu2022 E
Trost2022 G
CMTM4     mAGRE1573chr16:
66670486-66670486
TAsplicingPaternalsplicing19.948.251E-6Cirnigliaro2023 G
CMTM4     SP0063454chr16:
66730496-66730507
GGCCGCCGCATCGUTR5De novo--Fu2022 E
CMTM4     mAGRE1571chr16:
66670486-66670486
TAsplicingPaternalsplicing19.948.251E-6Cirnigliaro2023 G
CMTM4     AU4465303chr16:
66753723-66753723
TCintergenicDe novo--Yuen2017 G
CMTM4     iHART1571chr16:
66670486-66670486
TAsplicingPaternalsplicing19.948.251E-6Ruzzo2019 G
CMTM4     iHART1573chr16:
66670486-66670486
TAsplicingPaternalsplicing19.948.251E-6Ruzzo2019 G
CMTM4     iHART1443chr16:
66655964-66655964
CTsplicing;exonicMaternalsynonymous SNVNM_181521c.G624Ap.T208T12.365.0E-4Ruzzo2019 G
CMTM4     Wang2023:308chr16:
66730413-66730413
CGexonicDe novononsynonymous SNVNM_178818
NM_181521
c.G16C
c.G16C
p.E6Q
p.E6Q
21.3-Wang2023 E
CMTM4     mAGRE1443chr16:
66655964-66655964
CTsplicing;exonicMaternalsynonymous SNVNM_181521c.G624Ap.T208T12.365.0E-4Cirnigliaro2023 G
CMTM4     13649.p1chr16:
66665940-66665940
CTintronicDe novo--Turner2016 G
Werling2018 G
CMTM4     7-0080-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
CMTM4     1-0111-003chr16:
66714953-66714953
CTintronicDe novo--Trost2022 G
CMTM4     2-0296-004chr16:
66718024-66718028
GCTTAGintronicDe novo--Trost2022 G
CMTM4     2-1552-003chr16:
66663369-66663369
GCintronicDe novo--Trost2022 G
CMTM4     AU2777302chr16:
66714415-66714415
TCintronicDe novo--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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