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Results for "EML2"

Variant Events: 10

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
EML2     12194.p1chr19:
46120003-46120003
GAintronicMosaic-0.1447Dou2017 E
EML2     1-0155-003chr19:
46126957-46126957
CTintronicDe novo--Yuen2017 G
EML2     iHART2743chr19:
46122413-46122415
GGTGexonicMaternalframeshift deletionNM_012155
NM_001193268
NM_001193269
c.1157_1158del
c.1760_1761del
c.1598_1599del
p.H386fs
p.H587fs
p.H533fs
-8.622E-6Ruzzo2019 G
EML2     A28chr19:
46127682-46127682
CTintronicDe novo--Wu2018 G
EML2     2-0295-003chr19:
46167025-46167025
TGintergenicDe novo--Yuen2017 G
EML2     2-1549-003chr19:
46138100-46138100
CGintronicDe novo--Yuen2017 G
EML2     EGAN00001101246chr19:
46136262-46136262
TGintronicDe novo--Satterstrom2020 E
EML2     11143.p1chr19:
46137538-46137538
CAintronicMosaic--Dou2017 E
EML2     G01-GEA-87-HIchr19:
46118004-46118004
CTintronicDe novo--Satterstrom2020 E
EML2     2-1408-003chr19:
46125453-46125453
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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