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Results for "MAP1LC3B2"

Variant Events: 20

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
MAP1LC3B2     2-0144-003chr12:
117048033-117048033
TCintergenicDe novo--Yuen2017 G
MAP1LC3B2     1-0541-003chr12:
117131936-117131936
CAintergenicDe novo--Yuen2017 G
MAP1LC3B2     AU4433301chr12:
116998911-116998911
GAintronicDe novo--Trost2022 G
Yuen2017 G
MAP1LC3B2     1-0405-003chr12:
117048033-117048033
TCintergenicDe novo--Yuen2017 G
MAP1LC3B2     2-0300-003chr12:
117048048-117048048
AGintergenicDe novo--Yuen2017 G
MAP1LC3B2     1-0402-004chr12:
117032254-117032254
GAintergenicDe novo--Yuen2017 G
MAP1LC3B2     7-0273-003chr12:
117011248-117011248
AGintronicDe novo--Trost2022 G
Yuen2017 G
MAP1LC3B2     2-1066-003chr12:
117048033-117048033
TCintergenicDe novo--Yuen2017 G
MAP1LC3B2     2-1290-004chr12:
117048033-117048033
TCintergenicDe novo--Yuen2017 G
MAP1LC3B2     SP0098672chr12:
117013832-117013832
AGexonicDe novononsynonymous SNVNM_001085481c.A85Gp.T29A9.7858.236E-6Fu2022 E
Zhou2022 GE
MAP1LC3B2     SP0000034chr12:
117014080-117014080
GAexonicDe novononsynonymous SNVNM_001085481c.G333Ap.M111I6.849-Fu2022 E
Zhou2022 GE
MAP1LC3B2     2-1416-004chr12:
117048033-117048033
TCintergenicDe novo--Yuen2017 G
MAP1LC3B2     SMHC01299s000chr12:
117013887-117013887
TCexonicDe novononsynonymous SNVNM_001085481c.T140Cp.L47P14.27-Yuan2023 E
MAP1LC3B2     5-0050-003chr12:
117048033-117048033
TCintergenicDe novo--Yuen2017 G
MAP1LC3B2     2-0310-004chr12:
117136133-117136133
GAintergenicDe novo--Yuen2017 G
MAP1LC3B2     2-1329-003chr12:
117002557-117002557
GAintronicDe novo--Yuen2017 G
MAP1LC3B2     2-0144-004chr12:
117048033-117048033
TCintergenicDe novo--Yuen2017 G
MAP1LC3B2     AU039305chr12:
117123272-117123272
AATintergenicDe novo--Yuen2017 G
MAP1LC3B2     2-1337-003chr12:
117019184-117019184
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
MAP1LC3B2     AU3779304chr12:
117090774-117090774
GAintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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