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Results for "CDC73"

Variant Events: 14

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
CDC73     2-1567-004chr1:
193118909-193118909
TCintronicDe novo--Yuen2017 G
CDC73     2-1303-003chr1:
193189961-193189961
TCintronicDe novo--Yuen2017 G
CDC73     AU056604chr1:
193243194-193243197
TAAATAAintergenicDe novo--Yuen2017 G
CDC73     2-0144-003chr1:
193159837-193159841
AAACTAintronicDe novo--Yuen2017 G
CDC73     2-1505-004chr1:
193189442-193189442
CTintronicDe novo--Yuen2017 G
CDC73     NDAR_INVZD496DT3_wes1chr1:
193111163-193111163
GGACexonicDe novoframeshift insertionNM_024529c.696_697insACp.R232fs--DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
CDC73     AU2140305chr1:
193122895-193122895
TCintronicDe novo--Yuen2017 G
CDC73     AU2950302chr1:
193212067-193212087
TTTCTTCTTCTTCTTCTTCTTTTTCTTCTTCTTCTTCTTCTTCTTintronicDe novo--Yuen2017 G
CDC73     DEASD_0397_001chr1:
193110969-193110969
AGintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
CDC73     AU1725302chr1:
193117104-193117104
GCintronicDe novo--Yuen2017 G
CDC73     AU2437302chr1:
193135248-193135249
GCGintronicDe novo--Yuen2017 G
CDC73     1-0323-004chr1:
193261322-193261322
TCintergenicDe novo--Yuen2017 G
CDC73     2-0144-004chr1:
193159837-193159841
AAACTAintronicDe novo--Yuen2017 G
CDC73     2-1561-003chr1:
193229169-193229169
GTintergenicDe 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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