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Results for "ECT2L"

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
ECT2L     DEASD_1022_001chr6:
139167747-139167747
AGexonicDe novononsynonymous SNVNM_001195037
NM_001077706
c.A836G
c.A836G
p.D279G
p.D279G
8.293-Satterstrom2020 E
ECT2L     AU4033304chr6:
139185850-139185850
TCintronicDe novo--Yuen2017 G
ECT2L     AU072504chr6:
139119666-139119666
GCintronicDe novo--Yuen2017 G
ECT2L     iHART2500chr6:
139135663-139135663
GAexonicPaternalstopgainNM_001195037
NM_001077706
c.G102A
c.G102A
p.W34X
p.W34X
38.02.0E-4Ruzzo2019 G
ECT2L     SP0039355chr6:
139175261-139175261
GAexonicDe novononsynonymous SNVNM_001195037
NM_001077706
c.G1168A
c.G1168A
p.V390M
p.V390M
15.726.642E-5Feliciano2019 E
ECT2L     2-1380-003chr6:
139125536-139125536
TCintronicDe novo--Yuen2016 G
Yuen2017 G
ECT2L     11039.p1chr6:
139159666-139159666
AGintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
ECT2L     NDAR_INVFD105FB0_wes1chr6:
139204011-139204011
ATintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
ECT2L     iHART2502chr6:
139135663-139135663
GAexonicPaternalstopgainNM_001195037
NM_001077706
c.G102A
c.G102A
p.W34X
p.W34X
38.02.0E-4Ruzzo2019 G
ECT2L     14093.p1chr6:
139196040-139196040
TCintronicDe novo--Wilfert2021 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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