or
or
Exact

Results for "ALDH5A1"

Variant Events: 18

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
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
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     mAGRE4103chr6:
24515486-24515487		CTCexonicMaternalframeshift deletionNM_001080
NM_170740		c.819delT
c.858delT		p.T273fs
p.T286fs		-8.237E-5Cirnigliaro2023 G
ALDH5A1     mAGRE4102chr6:
24515486-24515487		CTCexonicMaternalframeshift deletionNM_001080
NM_170740		c.819delT
c.858delT		p.T273fs
p.T286fs		-8.237E-5Cirnigliaro2023 G
ALDH5A1     220-9948-203chr6:
24533768-24533768		GAexonicMaternalstopgainNM_001080
NM_170740		c.G1436A
c.G1475A		p.W479X
p.W492X		38.0-Stessman2017 T
ALDH5A1     mAGRE5290chr6:
24505099-24505099		GAexonicPaternalstopgainNM_001080
NM_170740		c.G612A
c.G612A		p.W204X
p.W204X		38.03.295E-5Cirnigliaro2023 G
ALDH5A1     06C56993chr6:
24512035-24512035		TAintronicDe novo--Satterstrom2020 E
Trost2022 G
ALDH5A1     14470.p1chr6:
24495298-24495298		GAexonicnonsynonymous SNVNM_001080
NM_170740		c.G74A
c.G74A		p.R25H
p.R25H		15.74-Zhou2022 GE
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
Zhou2022 GE
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--Trost2022 G
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

, -

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
More

VariCarta Copyright © 2016-2023 Contact Us