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Results for "MAP2"

Variant Events: 28

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
MAP2     PN400514chr2:
210518057-210518057
GAexonicUnknownnonsynonymous SNVNM_002374
NM_031845
NM_031847
NM_001039538
c.G163A
c.G163A
c.G163A
c.G163A
p.E55K
p.E55K
p.E55K
p.E55K
29.90.0094Leblond2019 E
MAP2     2-1303-003chr2:
210318124-210318124
TGintronicDe novo--Yuen2016 G
Yuen2017 G
MAP2     AU3951302chr2:
210455961-210455961
GAintronicDe novo--Yuen2017 G
MAP2     72-0745chr2:
210560711-210560711
TAexonicInheritednonsynonymous SNVNM_002374c.T3817Ap.C1273S9.3538.265E-6Patowary2019 E
MAP2     PN400464chr2:
210518057-210518057
GAexonicUnknownnonsynonymous SNVNM_002374
NM_031845
NM_031847
NM_001039538
c.G163A
c.G163A
c.G163A
c.G163A
p.E55K
p.E55K
p.E55K
p.E55K
29.90.0094Leblond2019 E
MAP2     AU071703chr2:
210291455-210291455
GTintronicDe novo--Yuen2017 G
MAP2     PN400521chr2:
210518057-210518057
GAexonicUnknownnonsynonymous SNVNM_002374
NM_031845
NM_031847
NM_001039538
c.G163A
c.G163A
c.G163A
c.G163A
p.E55K
p.E55K
p.E55K
p.E55K
29.90.0094Leblond2019 E
MAP2     2-1736-003chr2:
210346272-210346272
AGintronicDe novo--Yuen2017 G
MAP2     AU3964302chr2:
210432304-210432304
AGintronicDe novo--Yuen2017 G
MAP2     1-0231-004chr2:
210426118-210426118
AGintronicDe novo--Yuen2017 G
MAP2     2-1333-003chr2:
210329379-210329379
CTintronicDe novo--Yuen2017 G
MAP2     1-0552-003chr2:
210483407-210483407
GAintronicDe novo--Yuen2017 G
MAP2     1-0203-004chr2:
210508571-210508571
CTintronicDe novo--Yuen2017 G
MAP2     2-1127-003chr2:
210450206-210450206
ACintronicDe novo--Yuen2016 G
Yuen2017 G
MAP2     3-0661-000chr2:
210532257-210532257
GAintronicDe novo--Yuen2017 G
MAP2     1-0460-003chr2:
210618137-210618142
TTAAGTTTintergenicDe novo--Yuen2017 G
MAP2     12680.p1chr2:
210463519-210463519
GAintronicDe novo--Turner2016 G
MAP2     AU072904chr2:
210527679-210527679
TGintronicDe novo--Yuen2017 G
MAP2     1-0652-004chr2:
210364626-210364626
CTintronicDe novo--Yuen2017 G
MAP2     11513.p1chr2:
210386391-210386391
CTintronicDe novo--Iossifov2014 E
Kosmicki2017 E
MAP2     PN400113chr2:
210518057-210518057
GAexonicUnknownnonsynonymous SNVNM_002374
NM_031845
NM_031847
NM_001039538
c.G163A
c.G163A
c.G163A
c.G163A
p.E55K
p.E55K
p.E55K
p.E55K
29.90.0094Leblond2019 E
MAP2     2-1425-004chr2:
210355673-210355673
CTintronicDe novo--Yuen2017 G
MAP2     PN400487chr2:
210518057-210518057
GAexonicUnknownnonsynonymous SNVNM_002374
NM_031845
NM_031847
NM_001039538
c.G163A
c.G163A
c.G163A
c.G163A
p.E55K
p.E55K
p.E55K
p.E55K
29.90.0094Leblond2019 E
MAP2     AU4473301chr2:
210619138-210619138
GTintergenicDe novo--Yuen2017 G
MAP2     PN400284chr2:
210518057-210518057
GAexonicUnknownnonsynonymous SNVNM_002374
NM_031845
NM_031847
NM_001039538
c.G163A
c.G163A
c.G163A
c.G163A
p.E55K
p.E55K
p.E55K
p.E55K
29.90.0094Leblond2019 E
MAP2     EGAN00001100893chr2:
210561038-210561038
AGexonicDe novononsynonymous SNVNM_002374c.A4144Gp.I1382V8.561-Satterstrom2020 E
MAP2     2-1086-003chr2:
210454709-210454709
ACintronicDe novo--Yuen2017 G
MAP2     7-0044-003chr2:
210413494-210413494
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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