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Results for "NDRG4"

Variant Events: 10

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
NDRG4     AU2109302chr16:
58539066-58539066
AGintronicDe novo--Trost2022 G
Yuen2017 G
NDRG4     SMHC01637s000chr16:
58543215-58543215
TCexonicDe novononsynonymous SNVNM_001242834
NM_001242835
NM_001242836
NM_001242833
NM_001130487
NM_020465
NM_022910
c.T878C
c.T824C
c.T824C
c.T914C
c.T980C
c.T920C
c.T920C
p.L293P
p.L275P
p.L275P
p.L305P
p.L327P
p.L307P
p.L307P
16.34-Yuan2023 E
NDRG4     SP0117877chr16:
58521666-58521666
TCexonicDe novononsynonymous SNVNM_001130487c.T44Cp.L15P22.1-Fu2022 E
Trost2022 G
Zhou2022 GE
NDRG4     7-0253-004chr16:
58539069-58539069
CTintronicDe novo--Trost2022 G
Yuen2017 G
NDRG4     AU060004chr16:
58526607-58526607
GAintronicDe novo--Trost2022 G
Yuen2017 G
NDRG4     SP0081088chr16:
58538398-58538398
CTintronicDe novo--Trost2022 G
NDRG4     AU226Achr16:
58538527-58538527
GAexonicDe novononsynonymous SNVNM_001242834
NM_001242835
NM_001242836
NM_001242833
NM_001130487
NM_020465
NM_022910
c.G400A
c.G346A
c.G346A
c.G436A
c.G502A
c.G442A
c.G442A
p.G134R
p.G116R
p.G116R
p.G146R
p.G168R
p.G148R
p.G148R
26.51.648E-5DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
NDRG4     SP0122755chr16:
58498995-58498995
CCGintronicDe novo--Trost2022 G
NDRG4     09C80097chr16:
58540303-58540303
GAexonicDe novononsynonymous SNVNM_001242834
NM_001242835
NM_001242836
NM_001242833
NM_001130487
NM_020465
NM_022910
c.G439A
c.G385A
c.G385A
c.G475A
c.G541A
c.G481A
c.G481A
p.D147N
p.D129N
p.D129N
p.D159N
p.D181N
p.D161N
p.D161N
22.45.79E-5DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
NDRG4     MSSNG00440-003chr16:
58516881-58516881
GAintronicDe 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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