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Results for "KLF12"

Variant Events: 44

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
KLF12     2-1619-003chr13:
74675748-74675752
CTTATCintronicDe novo--Yuen2017 G
KLF12     7-0002-003chr13:
74538405-74538405
AGintronicDe novo--Yuen2017 G
KLF12     14370.p1chr13:
74314064-74314064
TAintronicDe novo--Turner2016 G
KLF12     7-0023-003chr13:
74584136-74584136
GAintronicDe novo--Yuen2017 G
KLF12     2-0503-003chr13:
74868737-74868737
CCTTGintergenicDe novo--Yuen2017 G
KLF12     2-1502-003chr13:
74835208-74835208
AGintergenicDe novo--Yuen2017 G
KLF12     AU008505chr13:
74633801-74633801
GAintronicDe novo--Yuen2017 G
KLF12     1-0338-003chr13:
74844837-74844837
GAintergenicDe novo--Yuen2017 G
KLF12     1-0936-003chr13:
74483702-74483702
AGintronicDe novo--Yuen2017 G
KLF12     AU4239301chr13:
74648105-74648105
TCintronicDe novo--Yuen2017 G
KLF12     AU4007301chr13:
74889181-74889181
CGintergenicDe novo--Yuen2017 G
KLF12     AU017304chr13:
74285475-74285475
AGintronicDe novo--Yuen2017 G
KLF12     1-0566-003chr13:
74840994-74840994
GAintergenicDe novo--Yuen2017 G
KLF12     AU2863303chr13:
74406485-74406485
TAintronicDe novo--Yuen2017 G
KLF12     1-0215-006chr13:
74379519-74379519
CTintronicDe novo--Yuen2017 G
KLF12     2-1239-003chr13:
74620211-74620211
AGintronicDe novo--Yuen2016 G
Yuen2017 G
KLF12     2-1619-004chr13:
74675748-74675752
CTTATCintronicDe novo--Yuen2017 G
KLF12     13637.p1chr13:
74383944-74383944
ACintronicDe novo--Wilfert2021 G
KLF12     2-1514-003chr13:
74487050-74487065
CCTCTCTCTCTCTCTCCCTCTCTCTCTCTCintronicDe novo--Yuen2017 G
KLF12     2-0028-003chr13:
74531211-74531213
AGGAGintronicDe novo--Yuen2017 G
KLF12     AU3881302chr13:
74439271-74439271
GAintronicDe novo--Yuen2017 G
KLF12     2-1430-003chr13:
74778546-74778546
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
KLF12     1-0460-003chr13:
74666788-74666807
AAAAAAGAAAAAGAAAAAGAAAAAAAGAAAAAGAintronicDe novo--Yuen2017 G
KLF12     AU2075302chr13:
74496333-74496333
TCintronicDe novo--Yuen2017 G
KLF12     7-0008-003chr13:
74888390-74888390
AGintergenicDe novo--Yuen2017 G
KLF12     A19chr13:
74849923-74849923
CTintergenicDe novo--Wu2018 G
KLF12     5-0015-003chr13:
74327164-74327164
CTintronicDe novo--Yuen2017 G
KLF12     2-0238-003chr13:
74701481-74701481
TCintronicDe novo--Yuen2017 G
KLF12     A30chr13:
74697509-74697509
CAintronicDe novo--Wu2018 G
KLF12     1-0541-003chr13:
74365291-74365291
ACintronicDe novo--Yuen2017 G
KLF12     2-0057-003chr13:
74369651-74369651
GTintronicDe novo--Yuen2017 G
KLF12     AU4378301chr13:
74695959-74695959
GCintronicDe novo--Yuen2017 G
KLF12     1-0636-003chr13:
74536707-74536707
GAintronicDe novo--Yuen2017 G
KLF12     3-0392-000chr13:
74525581-74525581
CGintronicDe novo--Yuen2016 G
KLF12     2-0202-003chr13:
74572467-74572467
TCintronicDe novo--Yuen2017 G
KLF12     2-0503-004chr13:
74868737-74868737
CCTTGintergenicDe novo--Yuen2017 G
KLF12     AU3649305chr13:
74967888-74967888
AGintergenicDe novo--Yuen2017 G
KLF12     AU4079301chr13:
74562773-74562773
TGintronicDe novo--Yuen2017 G
KLF12     AU018010chr13:
74514436-74514436
CAintronicDe novo--Yuen2017 G
KLF12     2-0225-004chr13:
74420252-74420252
TCexonicDe novononsynonymous SNVNM_007249c.A382Gp.T128A13.991.653E-5Yuen2015 G
Yuen2017 G
KLF12     1-0467-003chr13:
74560105-74560105
CTintronicDe novo--Yuen2017 G
KLF12     5-0015-004chr13:
74327164-74327164
CTintronicDe novo--Yuen2017 G
KLF12     AU3760301chr13:
74742908-74742908
TCintergenicDe novo--Yuen2017 G
KLF12     AU4234303chr13:
74668228-74668228
TCintronicDe 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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