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Results for "MAP2K4"

Variant Events: 24

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
MAP2K4     1-0467-003chr17:
11948359-11948359
AGintronicDe novo--Yuen2017 G
MAP2K4     2-1460-003chr17:
12396482-12396482
CTintergenicDe novo--Yuen2017 G
MAP2K4     1-0906-003chr17:
12347076-12347076
ATintergenicDe novo--Yuen2017 G
MAP2K4     2-1425-003chr17:
12019075-12019075
AGintronicDe novo--Yuen2017 G
MAP2K4     AU3911301chr17:
12177774-12177775
CTCintergenicDe novo--Yuen2017 G
MAP2K4     1-0901-003chr17:
12344273-12344273
AGintergenicDe novo--Yuen2017 G
MAP2K4     JASD_Fam0020chr17:
11924221-11924221
GAexonicDe novosynonymous SNVNM_001281435
NM_003010
c.G18A
c.G18A
p.P6P
p.P6P
--Takata2018 E
MAP2K4     JASD_Fam0020chr17:
11924235-11924235
GAexonicDe novononsynonymous SNVNM_001281435
NM_003010
c.G32A
c.G32A
p.G11D
p.G11D
12.2-Takata2018 E
MAP2K4     1-0321-004chr17:
12011444-12011444
AGintronicDe novo--Yuen2017 G
MAP2K4     1-0629-003chr17:
12206888-12206903
TTGTGTGTGTGTGTGTTTGTGTGTGTGTGTintergenicDe novo--Yuen2017 G
MAP2K4     JASD_Fam0020chr17:
11924226-11924226
GAexonicDe novononsynonymous SNVNM_001281435
NM_003010
c.G23A
c.G23A
p.G8D
p.G8D
12.08-Takata2018 E
MAP2K4     AU3951302chr17:
12047429-12047429
CTdownstreamDe novo--Yuen2017 G
MAP2K4     AU4153301chr17:
12015224-12015224
CTintronicDe novo--Yuen2017 G
MAP2K4     AU4473301chr17:
12020005-12020005
TCintronicDe novo--Yuen2017 G
MAP2K4     AU073005chr17:
12157941-12157941
AGintergenicDe novo--Yuen2017 G
MAP2K4     AU4013301chr17:
11952555-11952555
CTintronicDe novo--Yuen2017 G
MAP2K4     2-1427-003chr17:
12133807-12133807
GCintergenicDe novo--Yuen2017 G
MAP2K4     13825.p1chr17:
11999174-11999174
TGintronicDe novo--Werling2018 G
MAP2K4     AU025704chr17:
12019182-12019182
GAintronicDe novo--Yuen2017 G
MAP2K4     3-0456-000Bchr17:
12209393-12209393
TGintergenicDe novo--Yuen2017 G
MAP2K4     1-0051-005chr17:
12034416-12034416
TGintronicDe novo--Yuen2017 G
MAP2K4     1-1004-003chr17:
12113752-12113768
TCTCCTCCTCCTCCTCCTCTCCTCCTCCTCCintergenicDe novo--Yuen2017 G
MAP2K4     2-1166-003chr17:
12062101-12062101
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
MAP2K4     AU2458302chr17:
11975610-11975610
AGintronicDe 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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