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Results for "MAP7"

Variant Events: 11

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
MAP7     1-0218-004chr6:
136731870-136731870
GTintronicDe novo--Yuen2017 G
MAP7     2-1629-003chr6:
136709166-136709166
CTintronicDe novo--Yuen2017 G
MAP7     13951.p1chr6:
136725110-136725110
GAintronicDe novo--Turner2016 G
MAP7     1-0558-003chr6:
136773262-136773262
GAintronicDe novo--Yuen2017 G
MAP7     1-0978-003chr6:
136876027-136876027
CTintergenicDe novo--Yuen2017 G
MAP7     2-0704-003chr6:
136877148-136877148
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
MAP7     1-0978-003chr6:
136727082-136727082
CTintronicDe novo--Yuen2017 G
MAP7     2-1734-003chr6:
136798124-136798124
ATintronicDe novo--Yuen2017 G
MAP7     1360JS0016chr6:
136682268-136682268
GTexonicDe novononsynonymous SNVNM_001198617
NM_001198611
NM_001198616
NM_001198608
NM_001198609
NM_001198615
NM_001198618
NM_001198619
NM_003980
NM_001198614
c.C1294A
c.C1531A
c.C1465A
c.C1642A
c.C1666A
c.C1531A
c.C1138A
c.C1138A
c.C1576A
c.C1642A
p.R432S
p.R511S
p.R489S
p.R548S
p.R556S
p.R511S
p.R380S
p.R380S
p.R526S
p.R548S
12.68-DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
MAP7     1-0972-003chr6:
136784437-136784437
TCintronicDe novo--Yuen2017 G
MAP7     AU066403chr6:
136776028-136776028
CTintronicDe 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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