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Results for "MAP1B"

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
MAP1B     09C79752chr5:
71490638-71490638
CTexonicDe novostopgainNM_005909c.C1456Tp.R486X25.2-Fu2022 E
Satterstrom2020 E
MAP1B     EGAN00001100925chr5:
71479684-71479684
GAintronicDe novo--Satterstrom2020 E
MAP1B     2-0007-003chr5:
71450901-71450901
GAintronicDe novo--Yuen2017 G
MAP1B     AU3175302chr5:
71483027-71483028
CACintronicDe novo--Yuen2017 G
MAP1B     SP0015016chr5:
71491133-71491133
GTexonicDe novostopgainNM_005909c.G1951Tp.E651X23.5-Antaki2022 GE
Fu2022 E
MAP1B     09C81948chr5:
71491094-71491094
GTexonicDe novononsynonymous SNVNM_005909c.G1912Tp.V638L8.474-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
MAP1B     72-1047chr5:
71493249-71493249
CTexonicInheritednonsynonymous SNVNM_005909c.C4067Tp.P1356L12.11-Patowary2019 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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