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Results for "GLB1L2"

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
GLB1L2     AU039903chr11:
134212766-134212766
CAexonicUnknownnonsynonymous SNVNM_138342c.C205Ap.H69N16.19-Chahrour2012 E
GLB1L2     AU3912303chr11:
134229598-134229598
CTintronicDe novo--Yuen2017 G
GLB1L2     1-0638-003chr11:
134221171-134221171
ACintronicDe novo--Yuen2017 G
GLB1L2     2-1521-003chr11:
134245201-134245201
CTUTR3De novo--Yuen2017 G
GLB1L2     iHART3298chr11:
134241378-134241379
CTCexonicMaternalframeshift deletionNM_138342c.1421delTp.L474fs-3.297E-5Ruzzo2019 G
GLB1L2     iHART2086chr11:
134234285-134234286
ACAexonicMaternalframeshift deletionNM_138342c.798delCp.N266fs--Ruzzo2019 G
GLB1L2     iHART2578chr11:
134241715-134241715
CTexonicMaternalstopgainNM_138342c.C1498Tp.Q500X34.02.0E-4Ruzzo2019 G
GLB1L2     iHART2577chr11:
134241715-134241715
CTexonicMaternalstopgainNM_138342c.C1498Tp.Q500X34.02.0E-4Ruzzo2019 G
GLB1L2     iHART2971chr11:
134217283-134217283
GTexonicDe novononsynonymous SNVNM_138342c.G514Tp.D172Y19.12-Ruzzo2019 G
GLB1L2     2-1429-004chr11:
134242646-134242646
GAintronicDe novo--Yuen2017 G
GLB1L2     AU039903chr11:
134226201-134226201
CTexonicUnknownnonsynonymous SNVNM_138342c.C565Tp.R189C17.650.0031Chahrour2012 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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