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Results for "EPB41L4A"

Variant Events: 25

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
EPB41L4A     5-0033-004chr5:
111635867-111635867
CTintronicDe novo--Yuen2017 G
EPB41L4A     iHART3041chr5:
111545594-111545594
TTAexonicPaternalframeshift insertionNM_022140c.1172dupTp.V391fs--Ruzzo2019 G
EPB41L4A     AU4365302chr5:
111727170-111727170
GAintronicDe novo--Yuen2017 G
EPB41L4A     iHART2796chr5:
111519735-111519735
GAexonicMaternalstopgainNM_022140c.C1600Tp.R534X42.03.0E-4Ruzzo2019 G
EPB41L4A     iHART2795chr5:
111519735-111519735
GAexonicMaternalstopgainNM_022140c.C1600Tp.R534X42.03.0E-4Ruzzo2019 G
EPB41L4A     2-1620-003chr5:
111640541-111640541
AGintronicDe novo--Yuen2017 G
EPB41L4A     1-0299-003chr5:
111559804-111559804
GAintronicDe novo--Yuen2017 G
EPB41L4A     2-0270-004chr5:
111625873-111625873
AGintronicDe novo--Yuen2017 G
EPB41L4A     AU2988302chr5:
111713341-111713341
GAintronicDe novo--Yuen2017 G
EPB41L4A     AU3853302chr5:
111629332-111629332
GAintronicDe novo--Yuen2017 G
EPB41L4A     ASDFI_1077chr5:
111504467-111504467
GTexonicDe novononsynonymous SNVNM_022140c.C1901Ap.A634D11.73-Satterstrom2020 E
EPB41L4A     2-1362-003chr5:
111559797-111559797
TCintronicDe novo--Yuen2017 G
EPB41L4A     AU2458302chr5:
111538960-111538960
GAintronicDe novo--Yuen2017 G
EPB41L4A     AU2988303chr5:
111713341-111713341
GAintronicDe novo--Yuen2017 G
EPB41L4A     2-1346-003chr5:
111499299-111499307
GTGATTGATGTGATUTR3De novo--Yuen2017 G
EPB41L4A     DEASD_0059_001chr5:
111519883-111519883
TGintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
EPB41L4A     12656.p1chr5:
111519755-111519755
TTGexonicDe novoframeshift insertionNM_022140c.1579dupCp.Q527fs--Satterstrom2020 E
EPB41L4A     14179.p1chr5:
111506680-111506680
GAexonicMosaicsynonymous SNVNM_022140c.C1632Tp.P544P-2.0E-4Krupp2017 E
EPB41L4A     1-0638-003chr5:
111727991-111727991
GTintronicDe novo--Yuen2017 G
EPB41L4A     1-0402-003chr5:
111555551-111555551
CGintronicDe novo--Yuen2017 G
EPB41L4A     1-0222-003chr5:
111606956-111606956
CTintronicDe novo--Yuen2017 G
EPB41L4A     1-0436-003chr5:
111603509-111603509
CGintronicDe novo--Yuen2016 G
Yuen2017 G
EPB41L4A     1-0286-004chr5:
111559797-111559797
TCintronicDe novo--Yuen2017 G
EPB41L4A     AU2140306chr5:
111710758-111710758
GAintronicDe novo--Yuen2017 G
EPB41L4A     2-1164-003chr5:
111615209-111615209
GAintronicDe novo--Yuen2016 G
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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