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Results for "CRTAC1"

Variant Events: 18

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
CRTAC1     1-0269-005chr10:
99636338-99636338
TTCCintronicDe novo--Yuen2017 G
CRTAC1     2-1366-003chr10:
99654524-99654524
AGintronicDe novo--Yuen2017 G
CRTAC1     AU3761301chr10:
99781724-99781724
AGintronicDe novo--Yuen2017 G
CRTAC1     AU3782303chr10:
99701869-99701876
CAGAGAGACAGAGAGAGAintronicDe novo--Yuen2017 G
CRTAC1     AU075308chr10:
99771030-99771030
CTexonicUnknownnonsynonymous SNVNM_001206528
NM_018058
c.G89A
c.G89A
p.R30Q
p.R30Q
19.544.119E-5Chahrour2012 E
CRTAC1     AU045512chr10:
99849143-99849143
AGintergenicDe novo--Yuen2017 G
CRTAC1     AU045512chr10:
99849447-99849447
GTintergenicDe novo--Yuen2017 G
CRTAC1     1-0433-003chr10:
99804050-99804050
AACintergenicDe novo--Yuen2017 G
CRTAC1     2-0129-005chr10:
99889540-99889540
TCintergenicDe novo--Yuen2017 G
CRTAC1     1-0269-003chr10:
99636338-99636338
TTCCintronicDe novo--Yuen2017 G
CRTAC1     2-1094-004chr10:
99837312-99837312
AGintergenicDe novo--Yuen2017 G
CRTAC1     1-0559-005chr10:
99675400-99675400
CTintronicDe novo--Yuen2017 G
CRTAC1     2-0149-005chr10:
99882157-99882157
GAintergenicDe novo--Yuen2017 G
CRTAC1     AU4032305chr10:
99800481-99800481
CTintergenicDe novo--Yuen2017 G
CRTAC1     2-0144-003chr10:
99820208-99820212
ATAGTAintergenicDe novo--Yuen2017 G
CRTAC1     AU075308chr10:
99655659-99655659
CTexonicUnknownnonsynonymous SNVNM_001206528
NM_018058
c.G1300A
c.G1300A
p.V434I
p.V434I
15.842.0E-4Chahrour2012 E
CRTAC1     08C74159chr10:
99661390-99661390
CTexonicDe novononsynonymous SNVNM_001206528
NM_018058
c.G1003A
c.G1003A
p.A335T
p.A335T
24.01.656E-5Satterstrom2020 E
CRTAC1     2-1302-003chr10:
99716126-99716126
ACintronicDe 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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