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Results for "HNRNPU"

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
HNRNPU     M20402chr1:
245020950-245020950
GAexonicPaternalnonsynonymous SNVNM_004501
NM_031844
c.C1507T
c.C1564T
p.P503S
p.P522S
33.0-Guo2018 T
Wang2016 T
HNRNPU     2-1480-003chr1:
245044179-245044179
CAintergenicDe novo--Yuen2016 G
Yuen2017 G
HNRNPU     80575830chr1:
245027275-245027275
GGCexonicDe novoframeshift insertionNM_004501
NM_031844
c.334dupG
c.334dupG
p.A112fs
p.A112fs
--Wang2020 T
Wang2020 T
Wang2020 T
HNRNPU     1-0652-004chr1:
245035918-245035918
CTintergenicDe novo--Yuen2017 G
HNRNPU     04C29746chr1:
245018334-245018334
GAexonicDe novostopgainNM_004501
NM_031844
c.C2308T
c.C2365T
p.R770X
p.R789X
42.0-Wang2020 T
Wang2020 T
HNRNPU     1-0736-003chr1:
245117160-245117160
TAintergenicDe novo--Yuen2017 G
HNRNPU     08C74541chr1:
245022119-245022119
TCexonicDe novononsynonymous SNVNM_004501
NM_031844
c.A1085G
c.A1142G
p.Y362C
p.Y381C
21.7-Satterstrom2020 E
HNRNPU     M08566chr1:
245021539-245021539
TCexonicPaternalnonsynonymous SNVNM_004501
NM_031844
c.A1211G
c.A1268G
p.K404R
p.K423R
33.02.0E-4Guo2018 T
Wang2016 T
HNRNPU     HEN428.p1chr1:
245019928-245019929
CTCsplicingMaternalsplicing--Wang2020 T
Wang2020 T
HNRNPU     SP0023172chr1:
245027102-245027102
GAexonicDe novostopgainNM_004501
NM_031844
c.C508T
c.C508T
p.Q170X
p.Q170X
37.0-Feliciano2019 E
HNRNPU     13896.p1chr1:
245027141-245027141
CGexonicDe novononsynonymous SNVNM_004501
NM_031844
c.G469C
c.G469C
p.G157R
p.G157R
12.79-Ji2016 E
Krumm2015 E
Satterstrom2020 E
Wang2020 T
HNRNPU     SP0014959chr1:
245026983-245026983
CTexonicMosaicsynonymous SNVNM_004501
NM_031844
c.G627A
c.G627A
p.Q209Q
p.Q209Q
-1.827E-5Feliciano2019 E
HNRNPU     256031chr1:
245022642-245022644
GTAGexonicUnknownframeshift deletionNM_004501
NM_031844
c.993_994del
c.1050_1051del
p.Y331fs
p.Y350fs
--Wang2020 T
Wang2020 T
Wang2020 T
HNRNPU     2-0202-004chr1:
245104957-245104957
AGintergenicDe novo--Yuen2017 G
HNRNPU     10C108344chr1:
245027251-245027251
GAexonicDe novononsynonymous SNVNM_004501
NM_031844
c.C359T
c.C359T
p.P120L
p.P120L
14.13-Lim2017 E
HNRNPU     SSC09263chr1:
245027141-245027141
CGexonicDe novononsynonymous SNVNM_004501
NM_031844
c.G469C
c.G469C
p.G157R
p.G157R
12.79-Lim2017 E
HNRNPU     5-0133-003chr1:
245023470-245023470
TCintronicDe novo--Yuen2017 G
HNRNPU     80001104736chr1:
245025762-245025768
CAAGTATCexonicDe novononframeshift deletionNM_004501
NM_031844
c.815_820del
c.872_877del
p.272_274del
p.291_293del
--Satterstrom2020 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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