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Results for "EML5"

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
EML5     AU4336301chr14:
89218430-89218430
ACintronicDe novo--Yuen2017 G
EML5     NDAR_INVFF921HTH_wes1chr14:
89089060-89089060
GTexonicstopgainNM_183387c.C4901Ap.S1634X28.4-Doan2019 E
EML5     AU1725306chr14:
89178903-89178903
TCintronicDe novo--Yuen2017 G
EML5     2-1353-003chr14:
89162855-89162855
CTintronicDe novo--Yuen2016 G
Yuen2017 G
EML5     iHART1403chr14:
89110776-89110776
CAsplicingPaternalsplicing19.46-Ruzzo2019 G
EML5     AU1725302chr14:
89118052-89118059
AAATAATAAAATAintronicDe novo--Yuen2017 G
EML5     AU3787303chr14:
89145171-89145171
TCintronicDe novo--Yuen2017 G
EML5     iHART1401chr14:
89110776-89110776
CAsplicingPaternalsplicing19.46-Ruzzo2019 G
EML5     3-0018-000chr14:
89157816-89157816
GAintronicDe novo--Yuen2017 G
EML5     NDAR_INVYG798UD0_wes1chr14:
89154652-89154652
TCexonicDe novononsynonymous SNVNM_183387c.A2705Gp.H902R22.3-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 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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