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Results for "CYP3A5"

Variant Events: 7

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
CYP3A5     14370.p1chr7:
99257873-99257873
ATintronicDe novo--Turner2016 G
CYP3A5     DEASD_0346_001chr7:
99260477-99260477
AGexonicDe novononsynonymous SNVNM_000777
NM_001291829
NM_001291830
c.T827C
c.T488C
c.T797C
p.I276T
p.I163T
p.I266T
17.284.0E-4DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
CYP3A5     iHART1697chr7:
99270273-99270273
GGCexonicMaternalframeshift insertionNM_000777
NM_001190484
NM_001291830
c.247dupG
c.247dupG
c.217dupG
p.A83fs
p.A83fs
p.A73fs
-2.0E-4Ruzzo2019 G
CYP3A5     iHART1700chr7:
99270273-99270273
GGCexonicMaternalframeshift insertionNM_000777
NM_001190484
NM_001291830
c.247dupG
c.247dupG
c.217dupG
p.A83fs
p.A83fs
p.A73fs
-2.0E-4Ruzzo2019 G
CYP3A5     iHART1695chr7:
99270273-99270273
GGCexonicMaternalframeshift insertionNM_000777
NM_001190484
NM_001291830
c.247dupG
c.247dupG
c.217dupG
p.A83fs
p.A83fs
p.A73fs
-2.0E-4Ruzzo2019 G
CYP3A5     iHART2656chr7:
99261643-99261643
ATexonicPaternalstopgainNM_000777
NM_001291829
NM_001291830
c.T746A
c.T407A
c.T716A
p.L249X
p.L136X
p.L239X
23.52.0E-4Ruzzo2019 G
CYP3A5     iHART2657chr7:
99261643-99261643
ATexonicPaternalstopgainNM_000777
NM_001291829
NM_001291830
c.T746A
c.T407A
c.T716A
p.L249X
p.L136X
p.L239X
23.52.0E-4Ruzzo2019 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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