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Results for "C3orf38"

Variant Events: 61

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
C3orf38     2-1376-003chr3:
88940781-88940781
CTintergenicDe novo--Yuen2017 G
C3orf38     AU2248302chr3:
88495081-88495081
TCintergenicDe novo--Yuen2017 G
C3orf38     AU4379301chr3:
88316025-88316025
ACintergenicDe novo--Yuen2017 G
C3orf38     1-0898-003chr3:
88452167-88452167
TCintergenicDe novo--Yuen2017 G
C3orf38     1-0218-003chr3:
88366609-88366609
AGintergenicDe novo--Yuen2017 G
C3orf38     AU2108302chr3:
88819777-88819777
AGintergenicDe novo--Yuen2017 G
C3orf38     12521.p1chr3:
88205377-88205377
AGexonicMosaic, De novosynonymous SNVNM_173824c.A582Gp.G194G--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
C3orf38     AU4215302chr3:
88610696-88610696
GAintergenicDe novo--Yuen2017 G
C3orf38     2-1719-003chr3:
88522106-88522106
TAintergenicDe novo--Yuen2017 G
C3orf38     G01-GEA-76-HIchr3:
88205196-88205196
AGexonicDe novononsynonymous SNVNM_173824c.A401Gp.E134G11.269.118E-6Satterstrom2020 E
C3orf38     2-1322-004chr3:
88795837-88795837
AGintergenicDe novo--Yuen2017 G
C3orf38     AU2108302chr3:
88819767-88819767
TCintergenicDe novo--Yuen2017 G
C3orf38     14015.p1chr3:
88513457-88513457
GAintergenicDe novo--Turner2016 G
C3orf38     AU3840302chr3:
88806736-88806736
TGintergenicDe novo--Yuen2017 G
C3orf38     1-0826-003chr3:
88336944-88336944
CTintergenicDe novo--Yuen2017 G
C3orf38     11341.p1chr3:
88346239-88346239
GAintergenicDe novo--Turner2016 G
C3orf38     13393.p1chr3:
88352626-88352626
AGintergenicDe novo--Turner2016 G
C3orf38     5-0147-003chr3:
88931515-88931515
AGintergenicDe novo--Yuen2017 G
C3orf38     AU2139305chr3:
88906238-88906238
ACintergenicDe novo--Yuen2017 G
C3orf38     5-0073-003chr3:
88203772-88203772
TCintronicDe novo--Yuen2017 G
C3orf38     5-0073-003chr3:
88954494-88954494
AGintergenicDe novo--Yuen2017 G
C3orf38     AU078503chr3:
89122346-89122346
TAintergenicDe novo--Yuen2017 G
C3orf38     1-0638-003chr3:
88369221-88369224
TACATAintergenicDe novo--Yuen2017 G
C3orf38     AU3811305chr3:
88821166-88821166
GAintergenicDe novo--Yuen2017 G
C3orf38     2-1356-003chr3:
88472638-88472638
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
C3orf38     2-1300-003chr3:
88796235-88796235
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
C3orf38     1-0004-003chr3:
88824909-88824909
GCintergenicDe novo--Yuen2017 G
C3orf38     2-0303-004chr3:
89044564-89044564
GGAintergenicDe novo--Yuen2017 G
C3orf38     1-0203-004chr3:
88453058-88453058
CGintergenicDe novo--Yuen2017 G
C3orf38     AU4263304chr3:
89012609-89012609
GAintergenicDe novo--Yuen2017 G
C3orf38     1-0354-006chr3:
88879072-88879072
TCintergenicDe novo--Yuen2017 G
C3orf38     2-1370-003chr3:
88833607-88833607
GCintergenicDe novo--Yuen2016 G
Yuen2017 G
C3orf38     AU2792302chr3:
88932782-88932782
CTintergenicDe novo--Yuen2017 G
C3orf38     5-0041-003chr3:
88459555-88459555
GCintergenicDe novo--Yuen2017 G
C3orf38     5-0041-003chr3:
88459976-88459976
GAintergenicDe novo--Yuen2017 G
C3orf38     AU4212303chr3:
88899585-88899585
GCintergenicDe novo--Yuen2017 G
C3orf38     1-0180-004chr3:
88367494-88367494
GAintergenicDe novo--Yuen2017 G
C3orf38     5-0041-003chr3:
88459042-88459042
TAintergenicDe novo--Yuen2017 G
C3orf38     AU060703chr3:
88298891-88298891
CAintergenicDe novo--Yuen2017 G
C3orf38     2-1303-003chr3:
88268314-88268314
ATintergenicDe novo--Yuen2016 G
Yuen2017 G
C3orf38     1-0272-004chr3:
88787125-88787125
CAintergenicDe novo--Yuen2017 G
C3orf38     AU2139303chr3:
88379540-88379540
CAintergenicDe novo--Yuen2017 G
C3orf38     AU031404chr3:
88685019-88685019
GCintergenicDe novo--Yuen2017 G
C3orf38     AU009904chr3:
88495268-88495268
TCintergenicDe novo--Yuen2017 G
C3orf38     AU075210chr3:
88275600-88275611
TACTTTTAACTTTACTTintergenicDe novo--Yuen2017 G
C3orf38     AU2495301chr3:
88640132-88640132
ACintergenicDe novo--Yuen2017 G
C3orf38     AU4378301chr3:
89064212-89064212
CGintergenicDe novo--Yuen2017 G
C3orf38     7-0148-003chr3:
88326829-88326829
TCintergenicDe novo--Yuen2017 G
C3orf38     AU039304chr3:
88266535-88266535
CAintergenicDe novo--Yuen2017 G
C3orf38     7-0127-003chr3:
88841626-88841626
TAintergenicDe novo--Yuen2017 G
C3orf38     1-0772-003chr3:
88940080-88940080
CTintergenicDe novo--Yuen2017 G
C3orf38     1-0806-003chr3:
88254735-88254735
TCintergenicDe novo--Yuen2017 G
C3orf38     1-0324-003chr3:
88699046-88699046
AGintergenicDe novo--Yuen2017 G
C3orf38     14154.p1chr3:
88482613-88482613
GGTintergenicUnknown--Werling2018 G
C3orf38     A15chr3:
88453743-88453743
TTTintergenicDe novo--Wu2018 G
C3orf38     2-1174-006chr3:
88668900-88668900
GTintergenicDe novo--Yuen2017 G
C3orf38     AU017703chr3:
88772830-88772830
AGintergenicDe novo--Yuen2017 G
C3orf38     AU4015302chr3:
88886130-88886130
TAintergenicDe novo--Yuen2017 G
C3orf38     5-0045-003chr3:
88775931-88775931
ACintergenicDe novo--Yuen2017 G
C3orf38     AU072905chr3:
88942264-88942264
AGintergenicDe novo--Yuen2017 G
C3orf38     1-0564-003chr3:
89094482-89094482
CTintergenicDe novo--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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