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Results for "EGFLAM"

Variant Events: 34

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
EGFLAM     2-1429-003chr5:
38207440-38207440
AGintergenicDe novo--Yuen2017 G
EGFLAM     MT_76chr5:
38412638-38412642
TAAGTTexonicMaternalframeshift deletionNM_182798
NM_001205301
NM_152403
c.681_684del
c.1383_1386del
c.1383_1386del
p.V227fs
p.V461fs
p.V461fs
--Toma2013 E
EGFLAM     3C476chr5:
38407876-38407876
AGintronicDe novo--Satterstrom2020 E
EGFLAM     74-0355chr5:
38453769-38453769
AGintronicDe novo--Michaelson2012 G
EGFLAM     2-0135-003chr5:
37932366-37932366
GAintergenicDe novo--Yuen2017 G
EGFLAM     10C106241chr5:
38438583-38438583
CTintronicDe novo-4.128E-5Kosmicki2017 E
Satterstrom2020 E
EGFLAM     2-1562-004chr5:
38351335-38351335
CTintronicDe novo--Yuen2017 G
EGFLAM     AU3907302chr5:
38414345-38414345
AGintronicDe novo--Yuen2017 G
EGFLAM     1-0522-003chr5:
38449552-38449552
GAintronicDe novo--Yuen2017 G
EGFLAM     AU072505chr5:
38093463-38093463
TCintergenicDe novo--Yuen2017 G
EGFLAM     1-0271-004chr5:
38235796-38235796
CTintergenicDe novo--Yuen2017 G
EGFLAM     2-1169-004chr5:
37893116-37893116
GAintergenicDe novo--Yuen2017 G
EGFLAM     A2chr5:
38229798-38229798
ACintergenicDe novo--Wu2018 G
EGFLAM     AU3779304chr5:
38045288-38045288
GCintergenicDe novo--Yuen2017 G
EGFLAM     AU4473301chr5:
37952196-37952196
CTintergenicDe novo--Yuen2017 G
EGFLAM     2-0242-003chr5:
38304964-38304964
AGintronicDe novo--Yuen2017 G
EGFLAM     2-1567-004chr5:
38457078-38457078
AATAATintronicDe novo--Yuen2017 G
EGFLAM     1-0104-004chr5:
38097978-38097978
TGintergenicDe novo--Yuen2017 G
EGFLAM     1-0339-003chr5:
38118991-38118991
GTintergenicDe novo--Yuen2017 G
EGFLAM     AU3951301chr5:
38471357-38471357
AGintergenicDe novo--Yuen2017 G
EGFLAM     AU2975302chr5:
38425858-38425858
TAintronicDe novo--Yuen2017 G
EGFLAM     AU021204chr5:
38223563-38223563
CTintergenicDe novo--Yuen2017 G
EGFLAM     AU4487302chr5:
38281745-38281745
AGintronicDe novo--Yuen2017 G
EGFLAM     7-0024-005chr5:
38159561-38159561
ACintergenicDe novo--Yuen2017 G
EGFLAM     2-1089-003chr5:
37959937-37959937
GTintergenicDe novo--Yuen2017 G
EGFLAM     AU3702307chr5:
38114410-38114437
TTTTGTTTGTTTGTTTGTTTGTTTGTTTTTTTGTTTGTTTGTTTGTTTGTTTintergenicDe novo--Yuen2017 G
EGFLAM     Cukier2014:17351chr5:
38418311-38418311
CAexonicUnknownnonsynonymous SNVNM_182798
NM_001205301
NM_152403
c.C936A
c.C1638A
c.C1638A
p.D312E
p.D546E
p.D546E
24.10.003Cukier2014 E
EGFLAM     1-0323-003chr5:
38382675-38382682
CAAGTGGACintronicDe novo--Yuen2017 G
EGFLAM     2-1426-003chr5:
38348451-38348451
GAintronicDe novo--Yuen2017 G
EGFLAM     1-0007-003chr5:
38029084-38029084
CGintergenicDe novo--Yuen2017 G
EGFLAM     13543.p1chr5:
38072245-38072245
GAintergenicDe novo--Turner2016 G
EGFLAM     1-0383-003chr5:
38268620-38268620
GAintronicDe novo--Yuen2017 G
EGFLAM     2-1511-003chr5:
38194990-38194990
GCintergenicDe novo--Yuen2017 G
EGFLAM     A21chr5:
38234599-38234599
GAintergenicDe novo--Wu2018 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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