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Results for "ALDH5A1"

Variant Events: 14

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
ALDH5A1     NDAR_INVFH632MUM_wes1chr6:
24523086-24523086
GAexonicDe novononsynonymous SNVNM_001080
NM_170740
c.G1106A
c.G1145A
p.R369H
p.R382H
2.039-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
ALDH5A1     GX0506.p1chr6:
24505125-24505125
GAexonicMaternalnonsynonymous SNVNM_001080
NM_170740
c.G638A
c.G638A
p.R213Q
p.R213Q
37.08.24E-6Guo2018 T
ALDH5A1     AU080403chr6:
24533890-24533890
GAexonicPaternalnonsynonymous SNVNM_001080
NM_170740
c.G1558A
c.G1597A
p.G520S
p.G533S
35.0-Stessman2017 T
ALDH5A1     217-14230-3640chr6:
24528285-24528285
CTexonicInheritedstopgainNM_001080
NM_170740
c.C1234T
c.C1273T
p.R412X
p.R425X
37.04.943E-5Stessman2017 T
ALDH5A1     220-9948-203chr6:
24533768-24533768
GAexonicMaternalstopgainNM_001080
NM_170740
c.G1436A
c.G1475A
p.W479X
p.W492X
38.0-Stessman2017 T
ALDH5A1     06C56993chr6:
24512035-24512035
TAintronicDe novo--Satterstrom2020 E
ALDH5A1     13521.p1chr6:
24505151-24505151
GAexonicMosaic, De novononsynonymous SNVNM_001080
NM_170740
c.G664A
c.G664A
p.G222S
p.G222S
20.28.24E-6Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
ALDH5A1     Yalcintepe2021:9chr6:
24495468-24495468
GAexonicnonsynonymous SNVNM_001080
NM_170740
c.G244A
c.G244A
p.A82T
p.A82T
15.32-Yalcintepe2021 T
ALDH5A1     AU2000304chr6:
24498761-24498761
CTintronicDe novo--Yuen2017 G
ALDH5A1     07C69303chr6:
24505196-24505196
GAexonicUnknownnonsynonymous SNVNM_001080
NM_170740
c.G709A
c.G709A
p.A237T
p.A237T
24.12.474E-5Stessman2017 T
ALDH5A1     214-17109-1chr6:
24532406-24532406
GTsplicingPaternalsplicing20.2-Stessman2017 T
ALDH5A1     GX0406.p1chr6:
24528223-24528223
ACsplicingMaternalsplicing14.06-Guo2018 T
ALDH5A1     PN400157chr6:
24495246-24495246
CTexonicUnknownnonsynonymous SNVNM_001080
NM_170740
c.C22T
c.C22T
p.R8W
p.R8W
19.932.0E-4Leblond2019 E
ALDH5A1     PN400102chr6:
24495246-24495246
CTexonicUnknownnonsynonymous SNVNM_001080
NM_170740
c.C22T
c.C22T
p.R8W
p.R8W
19.932.0E-4Leblond2019 E
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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