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Results for "PRODH2"
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
PRODH2
11572.p1
chr19:
36314372-36314372
C
T
intergenic
De novo
-
-
Turner2016
G
PRODH2
AU4463303
chr19:
36297897-36297897
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
PRODH2
iHART2997
chr19:
36303404-36303404
G
A
exonic
Maternal
stopgain
NM_021232
c.C457T
p.R153X
19.39
4.994E-5
Ruzzo2019
G
PRODH2
SP0059906
chr19:
36293866-36293866
A
C
intronic
De novo
-
-
Trost2022
G
PRODH2
SP0188505
chr19:
36293866-36293866
A
C
intronic
De novo
-
-
Trost2022
G
PRODH2
mAGRE2998
chr19:
36303404-36303404
G
A
exonic
Maternal
stopgain
NM_021232
c.C457T
p.R153X
19.39
4.994E-5
Cirnigliaro2023
G
PRODH2
AC02-1140-01
chr19:
36297542-36297542
A
C
intronic
De novo
-
4.0E-4
Satterstrom2020
E
Trost2022
G
PRODH2
mAGRE2997
chr19:
36303404-36303404
G
A
exonic
Maternal
stopgain
NM_021232
c.C457T
p.R153X
19.39
4.994E-5
Cirnigliaro2023
G
PRODH2
iHART2998
chr19:
36303404-36303404
G
A
exonic
Maternal
stopgain
NM_021232
c.C457T
p.R153X
19.39
4.994E-5
Ruzzo2019
G
PRODH2
Al-Mubarak2017:ASD-58
chr19:
36303149-36303149
C
G
exonic
Unknown
nonsynonymous SNV
NM_021232
c.G625C
p.G209R
4.321
8.276E-6
Al-Mubarak2017
E
PRODH2
AU060803
chr19:
36313214-36313214
C
T
intergenic
De novo
-
-
Yuen2017
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 notes
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