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Results for "EPHX1"

Variant Events: 11

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
EPHX1     SMHC01550s000chr1:
226016564-226016564
AGexonicDe novononsynonymous SNVNM_000120
NM_001136018
NM_001291163
c.A134G
c.A134G
c.A134G
p.D45G
p.D45G
p.D45G
17.93-Yuan2023 E
EPHX1     REACH000738chr1:
226023086-226023086
TCintronicDe novo--Trost2022 G
EPHX1     SSC07571chr1:
226026444-226026444
GAexonicDe novononsynonymous SNVNM_000120
NM_001136018
NM_001291163
c.G454A
c.G454A
c.G454A
p.G152S
p.G152S
p.G152S
36.0-Fu2022 E
Trost2022 G
EPHX1     P6Q4Z_01chr1:
226014172-226014172
GAintronicDe novo--Trost2022 G
EPHX1     iHART1829chr1:
226027004-226027005
TGTexonicPaternalframeshift deletionNM_000120
NM_001136018
NM_001291163
c.680delG
c.680delG
c.680delG
p.W227fs
p.W227fs
p.W227fs
--Ruzzo2019 G
EPHX1     1-0112-003chr1:
226029643-226029649
TTATGAGTintronicDe novo--Yuen2017 G
EPHX1     1-0226-005chr1:
226005396-226005396
GAintronicDe novo--Trost2022 G
Yuen2017 G
EPHX1     13312.p1chr1:
226026444-226026444
GAexonicDe novononsynonymous SNVNM_000120
NM_001136018
NM_001291163
c.G454A
c.G454A
c.G454A
p.G152S
p.G152S
p.G152S
36.0-Ji2016 E
Krumm2015 E
Satterstrom2020 E
Zhou2022 GE
EPHX1     1-0112-004chr1:
226029643-226029649
TTATGAGTintronicDe novo--Yuen2017 G
EPHX1     mAGRE1829chr1:
226027004-226027005
TGTexonicPaternalframeshift deletionNM_000120
NM_001136018
NM_001291163
c.680delG
c.680delG
c.680delG
p.W227fs
p.W227fs
p.W227fs
--Cirnigliaro2023 G
EPHX1     4-0077-003chr1:
226029486-226029486
AGintronicDe novo--Trost2022 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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