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Results for "PTPRU"

Variant Events: 8

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
PTPRU     445-09-112127chr1:
29637233-29637233
CGintronicDe novo--Satterstrom2020 E
PTPRU     PN400559chr1:
29639127-29639127
GAexonicUnknownnonsynonymous SNVNM_001195001
NM_133178
NM_005704
NM_133177
c.G3127A
c.G3136A
c.G3166A
c.G3154A
p.V1043I
p.V1046I
p.V1056I
p.V1052I
33.03.0E-4Leblond2019 E
PTPRU     PN400556chr1:
29639127-29639127
GAexonicUnknownnonsynonymous SNVNM_001195001
NM_133178
NM_005704
NM_133177
c.G3127A
c.G3136A
c.G3166A
c.G3154A
p.V1043I
p.V1046I
p.V1056I
p.V1052I
33.03.0E-4Leblond2019 E
PTPRU     1-0273-004chr1:
29589918-29589918
TCintronicDe novo--Yuen2017 G
PTPRU     SP0036288chr1:
29631340-29631340
CTexonicDe novononsynonymous SNVNM_001195001
NM_133177
NM_133178
NM_005704
c.C2722T
c.C2722T
c.C2722T
c.C2752T
p.R908W
p.R908W
p.R908W
p.R918W
19.64.272E-5Feliciano2019 E
PTPRU     7-0194-003chr1:
29609624-29609624
CAintronicDe novo--Yuen2017 G
PTPRU     PN400528chr1:
29639127-29639127
GAexonicUnknownnonsynonymous SNVNM_001195001
NM_133178
NM_005704
NM_133177
c.G3127A
c.G3136A
c.G3166A
c.G3154A
p.V1043I
p.V1046I
p.V1056I
p.V1052I
33.03.0E-4Leblond2019 E
PTPRU     1-0497-003chr1:
29616544-29616544
CTintronicDe 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 notesView
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