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Results for "DCBLD2"

Variant Events: 49

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
DCBLD2     1-0763-004chr3:
98899398-98899398
CTintergenicDe novo--Yuen2017 G
DCBLD2     7-0254-004chr3:
98777224-98777240
TCCTCCCTCCCTCCCTCTCCTCCCTCCCTCintergenicDe novo--Yuen2017 G
DCBLD2     AU3849303chr3:
99078921-99078924
TCTGTintergenicDe novo--Yuen2017 G
DCBLD2     1-0119-004chr3:
98549494-98549494
CTintronicDe novo--Yuen2017 G
DCBLD2     5-0030-003chr3:
98895895-98895895
GGAATAGCTintergenicDe novo--Yuen2017 G
DCBLD2     1-0487-003chr3:
98875933-98875933
ACintergenicDe novo--Yuen2017 G
DCBLD2     13951.p1chr3:
98926679-98926679
TGintergenicDe novo--Turner2016 G
DCBLD2     1-0458-003chr3:
98549311-98549311
ATintronicDe novo--Yuen2017 G
DCBLD2     7-0104-003chr3:
98574325-98574325
TCintronicDe novo--Yuen2017 G
DCBLD2     1-0067-005chr3:
98558432-98558432
AGintronicDe novo--Yuen2017 G
DCBLD2     AU3052301chr3:
99217349-99217349
AGintergenicDe novo--Yuen2017 G
DCBLD2     AU3610302chr3:
99111578-99111578
TCintergenicDe novo--Yuen2017 G
DCBLD2     AU2495302chr3:
98778388-98778388
ACintergenicDe novo--Yuen2017 G
DCBLD2     1-0763-003chr3:
98536538-98536538
TCintronicDe novo--Yuen2017 G
DCBLD2     1-0388-003chr3:
99156038-99156038
AGintergenicDe novo--Yuen2017 G
DCBLD2     1-0054-004chr3:
98549620-98549620
TAintronicDe novo--Yuen2017 G
DCBLD2     2-1177-003chr3:
98744549-98744549
ACintergenicDe novo--Yuen2016 G
Yuen2017 G
DCBLD2     AU3720302chr3:
99130759-99130759
AGintergenicDe novo--Yuen2017 G
DCBLD2     DEASD_0059_001chr3:
98519379-98519379
AGintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
DCBLD2     AU4228301chr3:
98517137-98517142
TAAAAATAAAAUTR3De novo--Yuen2017 G
DCBLD2     2-1356-003chr3:
98533153-98533153
AGintronicDe novo--Yuen2017 G
DCBLD2     AU038204chr3:
98852843-98852843
AGintergenicDe novo--Yuen2017 G
DCBLD2     2-1266-003chr3:
99015402-99015402
CAintergenicDe novo--Yuen2017 G
DCBLD2     60-2027chr3:
99193445-99193445
AGintergenicDe novo--Michaelson2012 G
DCBLD2     2-1567-003chr3:
98611385-98611385
GAintronicDe novo--Yuen2017 G
DCBLD2     2-1283-004chr3:
98549575-98549575
TGintronicDe novo--Yuen2017 G
DCBLD2     2-1254-003chr3:
99002113-99002113
CTintergenicDe novo--Yuen2016 G
DCBLD2     5-0077-003chr3:
98549494-98549494
CTintronicDe novo--Yuen2017 G
DCBLD2     2-1235-004chr3:
98621631-98621631
GAintergenicDe novo--Yuen2017 G
DCBLD2     2-1522-003chr3:
99088959-99088959
CGintergenicDe novo--Yuen2017 G
DCBLD2     7-0188-003chr3:
99042427-99042427
GAintergenicDe novo--Yuen2017 G
DCBLD2     1-0885-003chr3:
98567261-98567261
GTintronicDe novo--Yuen2017 G
DCBLD2     2-1169-004chr3:
98980172-98980172
AGintergenicDe novo--Yuen2017 G
DCBLD2     AU4092302chr3:
98964574-98964599
AAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAintergenicDe novo--Yuen2017 G
DCBLD2     Cukier2014:7658chr3:
98600385-98600385
TCexonicUnknownnonsynonymous SNVNM_080927c.A432Gp.I144M15.10.0406Cukier2014 E
DCBLD2     1-0051-004chr3:
98549575-98549575
TGintronicDe novo--Yuen2017 G
DCBLD2     1-0045-004chr3:
98837978-98837978
CTintergenicDe novo--Yuen2017 G
DCBLD2     3-0134-000chr3:
99151961-99151961
TCintergenicDe novo--Yuen2017 G
DCBLD2     SP0032837chr3:
98538118-98538118
GAexonicDe novononsynonymous SNVNM_080927c.C1015Tp.P339S3.524-Feliciano2019 E
DCBLD2     2-1174-005Bchr3:
98549311-98549311
ATintronicDe novo--Yuen2017 G
DCBLD2     AU2485305chr3:
99118210-99118210
CAintergenicDe novo--Yuen2017 G
DCBLD2     AU3398301chr3:
99077025-99077025
AGintergenicDe novo--Yuen2017 G
DCBLD2     AU2756306chr3:
99247680-99247680
GAintergenicDe novo--Yuen2017 G
DCBLD2     AU4152303chr3:
98846721-98846721
CTintergenicDe novo--Yuen2017 G
DCBLD2     AU2117302chr3:
98847985-98847985
TCintergenicDe novo--Yuen2017 G
DCBLD2     2-1174-006chr3:
98549311-98549311
ATintronicDe novo--Yuen2017 G
DCBLD2     2-1591-003chr3:
99148224-99148224
AGintergenicDe novo--Yuen2017 G
DCBLD2     5-0050-003chr3:
98944902-98944902
AGintergenicDe novo--Yuen2017 G
DCBLD2     1-0533-003chr3:
98549575-98549575
TGintronicDe 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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