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Results for "MAP6"

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
MAP6     2-1581-003chr11:
75423298-75423298
TCintergenicDe novo--Yuen2017 G
MAP6     2-1366-003chr11:
75339524-75339524
TCintronicDe novo--Yuen2017 G
MAP6     AU2075301chr11:
75406652-75406652
CTintergenicDe novo--Yuen2017 G
MAP6     1-0304-003chr11:
75397637-75397637
TAintergenicDe novo--Yuen2016 G
Yuen2017 G
MAP6     2-1089-003chr11:
75408807-75408807
AGintergenicDe novo--Yuen2017 G
MAP6     AU074403chr11:
75390459-75390459
TCintergenicDe novo--Yuen2017 G
MAP6     2-1280-003chr11:
75309360-75309360
GCintronicDe novo--Yuen2016 G
Yuen2017 G
MAP6     2-1370-003chr11:
75408548-75408548
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
MAP6     2-1689-003chr11:
75334596-75334596
TCintronicDe novo--Yuen2017 G
MAP6     200675530_1082034224chr11:
75319204-75319204
GAexonicDe novononsynonymous SNVNM_033063
NM_207577
c.C1069T
c.C1069T
p.R357C
p.R357C
21.01.647E-5Fu2022 E
MAP6     Chen2017:72chr11:
75319204-75319204
GAexonicDe novononsynonymous SNVNM_033063
NM_207577
c.C1069T
c.C1069T
p.R357C
p.R357C
21.01.647E-5Chen2017 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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