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Results for "ADCK1"

Variant Events: 41

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
ADCK1     1-0271-004chr14:
78471899-78471899
CTintergenicDe novo--Yuen2017 G
ADCK1     2-1317-003chr14:
78600500-78600500
CTintergenicDe novo--Yuen2016 G
ADCK1     AU2770301chr14:
78286875-78286875
AGintronicDe novo--Trost2022 G
ADCK1     7-0095-003chr14:
78296585-78296585
TCintronicDe novo--Trost2022 G
Yuen2017 G
ADCK1     2-1169-004chr14:
78550621-78550621
GAintergenicDe novo--Yuen2017 G
ADCK1     11194.p1chr14:
78307905-78307905
GTintronicDe novo--Turner2016 G
ADCK1     13515.p1chr14:
78378091-78378091
ATintronicDe novo--Turner2016 G
ADCK1     2-1382-003chr14:
78394213-78394213
CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
ADCK1     1-0826-004chr14:
78296608-78296609
CATCintronicDe novo--Trost2022 G
ADCK1     MSSNG00334-004chr14:
78301125-78301125
CTintronicDe novo--Trost2022 G
ADCK1     1-0826-004chr14:
78296585-78296585
TCintronicDe novo--Trost2022 G
ADCK1     1-0826-004chr14:
78296588-78296590
GCACCGintronicDe novo--Trost2022 G
ADCK1     2-1562-003chr14:
78293643-78293643
TCintronicDe novo--Trost2022 G
ADCK1     1-0262-003Achr14:
78293906-78293906
TCintronicDe novo--Trost2022 G
ADCK1     2-1288-003chr14:
78491366-78491366
CGintergenicDe novo--Yuen2017 G
ADCK1     2-1562-003chr14:
78293608-78293612
CTACTTGGCGintronicDe novo--Trost2022 G
ADCK1     2-1451-004chr14:
78293608-78293612
CTACTTGGCGintronicDe novo--Trost2022 G
ADCK1     3-0044-000chr14:
78690354-78690354
TCintergenicDe novo--Trost2022 G
ADCK1     AU1952305chr14:
78347872-78347872
CTintronicDe novo--Trost2022 G
Yuen2017 G
ADCK1     AU1404301chr14:
78699957-78699957
GAintergenicDe novo--Yuen2017 G
ADCK1     4-0062-003chr14:
78640140-78640142
CGGTCAintergenicDe novo--Trost2022 G
ADCK1     2-1548-003chr14:
78645266-78645266
CTintergenicDe novo--Trost2022 G
ADCK1     5-0040-003chr14:
78296585-78296585
TCintronicDe novo--Trost2022 G
Yuen2017 G
ADCK1     2-1336-004chr14:
78374260-78374264
GAGGTATCexonicDe novononframeshift substitutionNM_001142545
NM_020421
c.652_654ATC
c.856_858ATC
N/A
N/A
--Trost2022 G
ADCK1     1-0090-003chr14:
78378471-78378471
GAintronicDe novo--Trost2022 G
ADCK1     1-0375-003chr14:
78672483-78672483
CTintergenicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
ADCK1     2-0305-003chr14:
78570522-78570522
GTintergenicDe novo--Yuen2017 G
ADCK1     2-1093-003chr14:
78293643-78293643
TCintronicDe novo--Trost2022 G
Yuen2017 G
ADCK1     3-0080-000chr14:
78308502-78308502
ATintronicDe novo--Yuen2016 G
ADCK1     AU3903301chr14:
78676951-78676951
GAintergenicDe novo--Trost2022 G
Yuen2017 G
ADCK1     5-0061-003chr14:
78293651-78293651
GCintronicDe novo--Trost2022 G
Yuen2017 G
ADCK1     2-0238-004chr14:
78303752-78303752
AATintronicDe novo--Trost2022 G
Yuen2017 G
ADCK1     AU4015303chr14:
78317617-78317617
CTintronicDe novo--Trost2022 G
Yuen2017 G
ADCK1     1-0126-003chr14:
78688788-78688788
CAintergenicDe novo--Trost2022 G
Yuen2017 G
ADCK1     1-0563-003chr14:
78367985-78367985
GAintronicDe novo--Trost2022 G
Yuen2017 G
ADCK1     1-0898-003chr14:
78410643-78410643
TCintergenicDe novo--Yuen2017 G
ADCK1     7-0256-003chr14:
78441355-78441358
GAAAGAAintergenicDe novo--Yuen2017 G
ADCK1     2-1330-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
ADCK1     2-0043-003chr14:
78654470-78654470
CGintergenicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
ADCK1     2-0043-003chr14:
78660380-78660380
GCintergenicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
ADCK1     3-0482-000chr14:
78468398-78468398
CTintergenicDe 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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