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Results for "CDKAL1"

Variant Events: 51

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
CDKAL1     2-0238-003chr6:
20987076-20987076
GAintronicDe novo--Yuen2017 G
CDKAL1     AU073006chr6:
20744673-20744673
TAintronicDe novo--Yuen2017 G
CDKAL1     2-1382-003chr6:
21111218-21111218
TAintronicDe novo--Yuen2017 G
CDKAL1     2-0264-004chr6:
20771078-20771078
TAintronicDe novo--Yuen2017 G
CDKAL1     5-0033-004chr6:
21269998-21269998
AGintergenicDe novo--Yuen2017 G
CDKAL1     5-0014-004chr6:
21353694-21353694
TTGintergenicDe novo--Yuen2017 G
CDKAL1     5-0017-004chr6:
20764937-20764937
AGintronicDe novo--Yuen2017 G
CDKAL1     AU1955302chr6:
20821488-20821488
CTintronicDe novo--Yuen2017 G
CDKAL1     AU3839302chr6:
20914414-20914414
GAintronicDe novo--Yuen2017 G
CDKAL1     2-1345-003chr6:
20667396-20667396
CTintronicDe novo--Yuen2016 G
Yuen2017 G
CDKAL1     2-1345-003chr6:
20800308-20800308
GAintronicDe novo--Yuen2016 G
Yuen2017 G
CDKAL1     AU3724302chr6:
21086699-21086699
GTintronicDe novo--Yuen2017 G
CDKAL1     AU1542303chr6:
21334496-21334496
GCintergenicDe novo--Yuen2017 G
CDKAL1     1-0395-003chr6:
21141981-21141981
GAintronicDe novo--Yuen2017 G
CDKAL1     2-1163-003chr6:
21474097-21474097
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
CDKAL1     2-0122-004chr6:
20657685-20657685
CTintronicDe novo--Yuen2017 G
CDKAL1     AU3858303chr6:
21462882-21462882
GAintergenicDe novo--Yuen2017 G
CDKAL1     AU1848302chr6:
20833295-20833295
GCintronicDe novo--Yuen2017 G
CDKAL1     A7chr6:
21310656-21310656
AGintergenicDe novo--Wu2018 G
CDKAL1     Cukier2014:7872chr6:
20546697-20546697
GAexonicUnknownnonsynonymous SNVNM_017774c.G116Ap.R39Q22.60.0054Cukier2014 E
CDKAL1     1-0248-003chr6:
20977788-20977788
CTintronicDe novo--Yuen2017 G
CDKAL1     7-0035-003chr6:
21344159-21344159
GAintergenicDe novo--Yuen2017 G
CDKAL1     1-0299-004chr6:
21353694-21353694
TTGintergenicDe novo--Yuen2017 G
CDKAL1     2-1408-004chr6:
20746364-20746364
AGintronicDe novo--Yuen2017 G
CDKAL1     2-1261-004chr6:
21090222-21090222
CCTAintronicDe novo--Yuen2017 G
CDKAL1     2-1480-003chr6:
20617113-20617114
CTCintronicDe novo--Yuen2016 G
CDKAL1     5-0088-003chr6:
20692987-20692987
AGintronicDe novo--Yuen2017 G
CDKAL1     AU4168306chr6:
21127913-21127913
GAintronicDe novo--Yuen2017 G
CDKAL1     2-1166-003chr6:
21216629-21216629
TCintronicDe novo--Yuen2016 G
Yuen2017 G
CDKAL1     A19chr6:
20694766-20694766
ATintronicDe novo--Wu2018 G
CDKAL1     1-0986-003chr6:
20633841-20633841
ATintronicDe novo--Yuen2017 G
CDKAL1     1-0226-005chr6:
21319918-21319918
GAintergenicDe novo--Yuen2017 G
CDKAL1     2-1562-004chr6:
21367432-21367432
GGTAintergenicDe novo--Yuen2017 G
CDKAL1     1-0197-004chr6:
21353694-21353694
TTTTTTTTTGintergenicDe novo--Yuen2017 G
CDKAL1     AU060703chr6:
21193376-21193376
GCintronicDe novo--Yuen2017 G
CDKAL1     2-0122-003chr6:
20732952-20732952
GAintronicDe novo--Yuen2017 G
CDKAL1     5-0046-003chr6:
20833246-20833246
AGintronicDe novo--Yuen2017 G
CDKAL1     7-0128-003chr6:
20768863-20768863
GAintronicDe novo--Yuen2017 G
CDKAL1     AU1725306chr6:
21403087-21403087
ATintergenicDe novo--Yuen2017 G
CDKAL1     13316.p1chr6:
20844164-20844164
CAintronicDe novo--Wilfert2021 G
CDKAL1     2-1210-003chr6:
20844901-20844901
CTintronicDe novo--Yuen2017 G
CDKAL1     AU056804chr6:
21184624-21184624
CTintronicDe novo--Yuen2017 G
CDKAL1     1-0446-003chr6:
21382990-21382990
AAGintergenicDe novo--Yuen2017 G
CDKAL1     7-0194-003chr6:
20601275-20601275
GTintronicDe novo--Yuen2017 G
CDKAL1     1-0285-003chr6:
20738833-20738833
GTintronicDe novo--Yuen2017 G
CDKAL1     1-0395-004chr6:
21141981-21141981
GAintronicDe novo--Yuen2017 G
CDKAL1     AU3782303chr6:
20658703-20658703
TCintronicDe novo--Yuen2017 G
CDKAL1     AU2485305chr6:
20764104-20764104
TGintronicDe novo--Yuen2017 G
CDKAL1     13393.p1chr6:
21290827-21290827
GTintergenicDe novo--Turner2016 G
CDKAL1     2-1346-003chr6:
21412875-21412875
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
CDKAL1     1-0593-003chr6:
20824545-20824545
GAintronicDe 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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