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Results for "EPB41L1"

Variant Events: 9

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
EPB41L1     200675750@1082026144chr20:
34765932-34765932
AGexonicDe novononsynonymous SNVNM_001258331
NM_012156
NM_177996
NM_001258329
NM_001258330
c.A215G
c.A401G
c.A215G
c.A401G
c.A308G
p.E72G
p.E134G
p.E72G
p.E134G
p.E103G
27.2-Satterstrom2020 E
EPB41L1     AU2433302chr20:
34800128-34800128
AGintronicDe novo--Yuen2017 G
EPB41L1     2-1178-003chr20:
34772728-34772728
GAintronicDe novo--Yuen2016 G
Yuen2017 G
EPB41L1     AU3913301chr20:
34782920-34782920
GCintronicDe novo--Yuen2017 G
EPB41L1     13771.p1chr20:
34778600-34778600
GAexonicDe novononsynonymous SNVNM_001258331
NM_012156
NM_177996
NM_001258329
NM_001258330
c.G995A
c.G1181A
c.G995A
c.G1181A
c.G1088A
p.R332Q
p.R394Q
p.R332Q
p.R394Q
p.R363Q
36.0-Ji2016 E
Krumm2015 E
Satterstrom2020 E
EPB41L1     AU079204chr20:
34733099-34733099
CTintronicDe novo--Yuen2017 G
EPB41L1     Chen2017:125chr20:
34765932-34765932
AGexonicDe novononsynonymous SNVNM_001258331
NM_012156
NM_177996
NM_001258329
NM_001258330
c.A215G
c.A401G
c.A215G
c.A401G
c.A308G
p.E72G
p.E134G
p.E72G
p.E134G
p.E103G
27.2-Chen2017 E
EPB41L1     1-0261-004chr20:
34816761-34816761
ACintronicDe novo--Yuen2017 G
EPB41L1     1-0339-004chr20:
34723436-34723436
TAintronicDe novo--Yuen2017 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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