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Results for "CTDP1"

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
CTDP1     2-1182-003chr18:
77463184-77463184
CGintronicDe novo--Yuen2017 G
CTDP1     2-1386-003chr18:
77531920-77531922
CTTCTintergenicDe novo--Yuen2017 G
CTDP1     74-0355chr18:
77596765-77596765
CTintergenicDe novo--Michaelson2012 G
CTDP1     1-0559-004chr18:
77503963-77503963
CTintronicDe novo--Yuen2017 G
CTDP1     7-0102-003chr18:
77440560-77440560
CTintronicDe novo--Yuen2017 G
CTDP1     2-1308-003chr18:
77464903-77464903
CAexonicDe novononsynonymous SNVNM_001202504
NM_004715
NM_048368
c.C401A
c.C758A
c.C758A
p.A134E
p.A253E
p.A253E
18.3-Yuen2016 G
CTDP1     AU3997301chr18:
77588764-77588764
CCATintergenicDe novo--Yuen2017 G
CTDP1     2-1505-004chr18:
77596807-77596807
AGintergenicDe novo--Yuen2017 G
CTDP1     AU1988301chr18:
77528961-77528961
CAintergenicDe novo--Yuen2017 G
CTDP1     1-0320-004chr18:
77457553-77457553
AGintronicDe novo--Yuen2017 G
CTDP1     AU4215302chr18:
77527194-77527194
ACintergenicDe novo--Yuen2017 G
CTDP1     1-0373-003chr18:
77551105-77551106
AGAintergenicDe novo--Yuen2017 G
CTDP1     AU054103chr18:
77466552-77466552
CTintronicDe novo--Yuen2017 G
CTDP1     AU4183301chr18:
77514621-77514621
CTdownstreamDe novo--Yuen2017 G
CTDP1     1-0153-004chr18:
77522258-77522258
AGintergenicDe novo--Yuen2017 G
CTDP1     1-0720-003chr18:
77539244-77539244
CTintergenicDe novo--Yuen2017 G
CTDP1     1-0402-003chr18:
77503966-77503966
CTintronicDe novo--Yuen2017 G
CTDP1     2-1398-003chr18:
77512746-77512746
CGintronicDe novo--Yuen2017 G
CTDP1     08C75577chr18:
77475320-77475320
GAexonicDe novosynonymous SNVNM_001202504
NM_004715
NM_048368
c.G1503A
c.G1860A
c.G1860A
p.P501P
p.P620P
p.P620P
-1.177E-5Satterstrom2020 E
Source Variant Information

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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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