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Results for "ECSIT"

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
ECSIT     14075.p1chr19:
11624908-11624908
CTexonicDe novosynonymous SNVNM_001142464
NM_001243204
NM_016581
c.G225A
c.G225A
c.G225A
p.L75L
p.L75L
p.L75L
--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
ECSIT     P1364chr19:
11618318-11618318
CGexonicDe novononsynonymous SNVNM_001142465
NM_001142464
NM_001243204
NM_016581
c.G363C
c.G856C
c.G884C
c.G1005C
p.E121D
p.V286L
p.S295T
p.E335D
3.061.648E-5Hashimoto2016 E
ECSIT     5-0055-003chr19:
11625748-11625748
TGintronicDe novo--Yuen2017 G
ECSIT     SSC06568chr19:
11617124-11617124
ACexonicDe novononsynonymous SNVNM_001142465
NM_016581
c.T529G
c.T1171G
p.F177V
p.F391V
21.6-Lim2017 E
ECSIT     SP0030742chr19:
11624124-11624124
ACintronicDe novo--Fu2022 E
ECSIT     SP0043680chr19:
11624772-11624772
CGexonicDe novononsynonymous SNVNM_001142464
NM_001243204
NM_016581
c.G361C
c.G361C
c.G361C
p.G121R
p.G121R
p.G121R
26.1-Fu2022 E
ECSIT     14075_p1chr19:
11624908-11624908
CTexonicDe novosynonymous SNVNM_001142464
NM_001243204
NM_016581
c.G225A
c.G225A
c.G225A
p.L75L
p.L75L
p.L75L
--Fu2022 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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