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Results for "DDR2"

Variant Events: 8

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
DDR2     1-0285-004chr1:
162742688-162742688
ATintronicDe novo--Yuen2017 G
DDR2     AU3506303chr1:
162626638-162626650
TTATTTTTTTTGTTTintronicDe novo--Yuen2017 G
DDR2     3-0140-000chr1:
162697829-162697840
ATATATCTATATATATATintronicDe novo--Yuen2017 G
DDR2     2-1428-003chr1:
162742383-162742383
ATintronicDe novo--Yuen2016 G
Yuen2017 G
DDR2     AU3728301chr1:
162753199-162753199
GAintergenicDe novo--Yuen2017 G
DDR2     14153.p1chr1:
162680878-162680878
GTintronicDe novo--Turner2016 G
DDR2     12212.p1chr1:
162737120-162737120
AGexonicDe novononsynonymous SNVNM_006182
NM_001014796
c.A1264G
c.A1264G
p.R422G
p.R422G
18.99-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
DDR2     1-0458-003chr1:
162707876-162707876
TAintronicDe 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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