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Results for "EHHADH"

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
EHHADH     2-1629-003chr3:
184941762-184941762
TCintronicDe novo--Yuen2017 G
EHHADH     09C99843chr3:
184953086-184953086
GAexonicDe novononsynonymous SNVNM_001166415
NM_001966
c.C55T
c.C343T
p.H19Y
p.H115Y
4.138-Fu2022 E
Satterstrom2020 E
EHHADH     13649.p1chr3:
184968374-184968374
GCintronicDe novo--Turner2016 G
EHHADH     AU1668302chr3:
184977201-184977201
CTintergenicDe novo--Yuen2017 G
EHHADH     13154.p1chr3:
184910031-184910031
GAexonicMosaicnonsynonymous SNVNM_001166415
NM_001966
c.C1867T
c.C2155T
p.P623S
p.P719S
9.99-Krupp2017 E
EHHADH     SP0053071chr3:
184971643-184971643
GAUTR5De novo--Fu2022 E
EHHADH     Cukier2014:37037chr3:
184910078-184910078
GAexonicUnknownnonsynonymous SNVNM_001166415
NM_001966
c.C1820T
c.C2108T
p.S607F
p.S703F
18.120.0097Cukier2014 E
EHHADH     iHART1480chr3:
184910085-184910085
GGTexonicMaternalframeshift insertionNM_001166415
NM_001966
c.1812dupA
c.2100dupA
p.L605fs
p.L701fs
-1.0E-4Ruzzo2019 G
EHHADH     iHART2479chr3:
184910037-184910047
CTGCCAAGCTTCexonicPaternalframeshift deletionNM_001166415
NM_001966
c.1851_1860del
c.2139_2148del
p.Q617fs
p.Q713fs
-8.334E-6Ruzzo2019 G
EHHADH     1-0452-003chr3:
184961612-184961612
GAintronicDe novo--Yuen2017 G
EHHADH     1-0494-003Achr3:
184974673-184974673
AATAACintergenicDe novo--Yuen2017 G
EHHADH     iHART2480chr3:
184910037-184910047
CTGCCAAGCTTCexonicPaternalframeshift deletionNM_001166415
NM_001966
c.1851_1860del
c.2139_2148del
p.Q617fs
p.Q713fs
-8.334E-6Ruzzo2019 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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