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Results for "MAP4"

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
MAP4     PN400178chr3:
47933504-47933504
GAintronicUnknown36.0-Leblond2019 E
MAP4     PN400386chr3:
47933504-47933504
GAintronicUnknown36.0-Leblond2019 E
MAP4     PN400455chr3:
47933504-47933504
GAintronicUnknown36.0-Leblond2019 E
MAP4     2-1719-003chr3:
48074997-48075008
TTGAAGTGAAGTTTGAAGTintronicDe novo--Yuen2017 G
MAP4     2-1644-003chr3:
48000678-48000678
GAintronicDe novo--Yuen2017 G
MAP4     AU3698301chr3:
47912800-47912800
AGintronicDe novo-8.247E-6Yuen2017 G
MAP4     11842.p1chr3:
47918907-47918907
CTexonicMosaicsynonymous SNVNM_001134364
NM_002375
c.G2106A
c.G2106A
p.K702K
p.K702K
14.09-Krupp2017 E
MAP4     2-1456-004chr3:
47964033-47964037
AAGACAintronicDe novo--Yuen2017 G
MAP4     Lim2017:4890chr3:
47969769-47969769
CAexonicDe novononsynonymous SNVNM_001134364
NM_002375
c.G364T
c.G364T
p.D122Y
p.D122Y
13.89-Lim2017 E
MAP4     AU4186302chr3:
48166474-48166474
CTintergenicDe novo--Yuen2017 G
MAP4     14496.p1chr3:
48024445-48024445
TGintronicDe novo--Turner2016 G
MAP4     7-0024-005chr3:
47996165-47996165
AGintronicDe novo--Yuen2017 G
MAP4     AU059903chr3:
47977332-47977332
GTintronicDe novo--Yuen2017 G
MAP4     A19chr3:
48143560-48143560
GAintergenicDe novo--Wu2018 G
MAP4     14496.p1chr3:
47899083-47899083
TGintronicDe novo--Turner2016 G
MAP4     2-0090-003chr3:
48079351-48079351
GCintronicDe novo--Yuen2017 G
MAP4     2-1272-003chr3:
47957453-47957453
TCexonicDe novononsynonymous SNVNM_001134364
NM_002375
c.A1864G
c.A1864G
p.M622V
p.M622V
1.269-Jiang2013 G
Yuen2016 G
MAP4     7-0095-003chr3:
47973545-47973545
CTintronicDe novo--Yuen2017 G
MAP4     PN400190chr3:
47933504-47933504
GAintronicUnknown36.0-Leblond2019 E
MAP4     2-1300-003chr3:
47972018-47972018
ATintronicDe novo--Yuen2016 G
MAP4     08C74627chr3:
48028831-48028831
CTintronicDe novo--Satterstrom2020 E
MAP4     1-0531-003chr3:
48189939-48189939
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
MAP4     13822.p1chr3:
47969769-47969769
CAexonicDe novononsynonymous SNVNM_001134364
NM_002375
c.G364T
c.G364T
p.D122Y
p.D122Y
13.89-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
MAP4     AU005213chr3:
47972138-47972138
GAintronicDe novo--Yuen2017 G
MAP4     1-0965-003chr3:
48191255-48191255
CTintergenicDe novo--Yuen2017 G
MAP4     3-0391-000chr3:
48023582-48023582
CAintronicDe novo--Yuen2017 G
MAP4     AU031403chr3:
47973812-47973812
CAintronicDe novo--Yuen2017 G
MAP4     14518.p1chr3:
47963210-47963210
TAintronicDe novo-5.086E-5Satterstrom2020 E
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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