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Results for "EDC3"

Variant Events: 12

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
EDC3     12875.p1chr15:
74931393-74931393
GTintronicDe novo--Werling2018 G
EDC3     SP0033860chr15:
74925056-74925056
TCexonicDe novononsynonymous SNVNM_025083
NM_001142444
NM_001142443
c.A1424G
c.A1424G
c.A1424G
p.Y475C
p.Y475C
p.Y475C
18.57-Fu2022 E
Trost2022 G
Zhou2022 GE
EDC3     2-0244-003chr15:
74946957-74946957
GTintronicDe novo--Yuen2017 G
EDC3     AU043804chr15:
74974505-74974505
AGintronicDe novo--Trost2022 G
Yuen2017 G
EDC3     AU2433303chr15:
74969649-74969649
GAintronicDe novo--Yuen2017 G
EDC3     2-1605-004chr15:
74935167-74935167
AGintronicDe novo--Trost2022 G
Yuen2017 G
EDC3     4-0088-003chr15:
74940775-74940775
CTintronicDe novo--Trost2022 G
EDC3     5-5186-003chr15:
74966107-74966107
GAintronicDe novo--Trost2022 G
EDC3     1-0138-004chr15:
74946957-74946957
GTintronicDe novo--Yuen2017 G
EDC3     3-0102-000chr15:
74928753-74928753
CTintronicDe novo--Trost2022 G
EDC3     3-0102-000chr15:
74925208-74925208
CGexonicDe novononsynonymous SNVNM_025083
NM_001142444
NM_001142443
c.G1272C
c.G1272C
c.G1272C
p.W424C
p.W424C
p.W424C
19.91-Trost2022 G
Zhou2022 GE
EDC3     G01_GEA534HIchr15:
74925213-74925213
GAexonicDe novononsynonymous SNVNM_025083
NM_001142444
NM_001142443
c.C1267T
c.C1267T
c.C1267T
p.P423S
p.P423S
p.P423S
16.06-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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