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Results for "ECE2"

Variant Events: 8

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
ECE2     SP0017214chr3:
184009183-184009183
GAexonicDe novononsynonymous SNVNM_001037324
NM_001100120
NM_001100121
NM_014693
c.G1990A
c.G2215A
c.G2077A
c.G2431A
p.V664M
p.V739M
p.V693M
p.V811M
16.243.478E-5Trost2022 G
ECE2     SP0034602chr3:
183993793-183993793
CCGGGintronicDe novo--Trost2022 G
ECE2     10-1104-004chr3:
184005814-184005814
GAintronicDe novo--Trost2022 G
ECE2     AU026Achr3:
183994332-183994332
GAexonicDe novononsynonymous SNVNM_001100120
NM_001100121
c.G103A
c.G103A
p.G35R
p.G35R
9.444-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
ECE2     2-0045-003chr3:
184007415-184007415
CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
ECE2     AU3806304chr3:
183967679-183967679
GAsplicingMaternalsplicing20.2-Cirnigliaro2023 G
ECE2     12675.p1chr3:
184008963-184008963
GAexonicDe novononsynonymous SNVNM_001037324
NM_001100120
NM_001100121
NM_014693
c.G1883A
c.G2108A
c.G1970A
c.G2324A
p.R628H
p.R703H
p.R657H
p.R775H
17.88-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE
ECE2     SSC04956chr3:
184008963-184008963
GAexonicDe novononsynonymous SNVNM_001037324
NM_001100120
NM_001100121
NM_014693
c.G1883A
c.G2108A
c.G1970A
c.G2324A
p.R628H
p.R703H
p.R657H
p.R775H
17.88-Fu2022 E
Trost2022 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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