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Results for "MAP7D2"

Variant Events: 7

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
MAP7D2     AU025704chrX:
20068183-20068183
CTintronicDe novo--Yuen2017 G
MAP7D2     AU4235302chrX:
20088640-20088640
GAintronicDe novo--Yuen2017 G
MAP7D2     SJD_50chrX:
20029039-20029039
CTexonicMaternalnonsynonymous SNVNM_001168466
NM_001168467
NM_152780
NM_001168465
c.G1946A
c.G1925A
c.G2081A
c.G2204A
p.G649D
p.G642D
p.G694D
p.G735D
25.15.701E-5Toma2013 E
MAP7D2     1-0972-003chrX:
20102488-20102488
CTintronicDe novo--Yuen2017 G
MAP7D2     1-0460-003chrX:
20040736-20040736
CTintronicDe novo--Yuen2017 G
MAP7D2     2-1160-003chrX:
20073647-20073647
AGintronicDe novo--Yuen2017 G
MAP7D2     AU038703chrX:
20065499-20065499
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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