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Results for "HNRNPUL1"

Variant Events: 12

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
HNRNPUL1     10C117850chr19:
41784944-41784944
GTintronicDe novo--Kosmicki2017 E
HNRNPUL1     2-0242-005chr19:
41787513-41787513
GAintronicDe novo--Yuen2017 G
HNRNPUL1     GX0244.p1chr19:
41779891-41779891
CTexonicMaternalnonsynonymous SNVNM_001301016
NM_007040
NM_144732
c.C310T
c.C577T
c.C277T
p.R104C
p.R193C
p.R93C
27.78.245E-6Wang2020 T
Wang2020 T
HNRNPUL1     220-9854-200chr19:
41811714-41811715
CACexonicUnknownframeshift deletionNM_001301016
NM_007040
NM_144732
c.2130delA
c.2397delA
c.2097delA
p.P710fs
p.P799fs
p.P699fs
--Wang2020 T
HNRNPUL1     AU4028302chr19:
41785516-41785516
GTintronicDe novo--Yuen2017 G
HNRNPUL1     SSC05866chr19:
41800478-41800478
CTexonicDe novononsynonymous SNVNM_001301016
NM_007040
NM_144732
c.C1138T
c.C1405T
c.C1105T
p.R380W
p.R469W
p.R369W
22.7-Lim2017 E
HNRNPUL1     2-1690-003chr19:
41809775-41809775
CTintronicDe novo--Yuen2017 G
HNRNPUL1     2-0142-003chr19:
41812505-41812505
CTUTR3De novo--Yuen2017 G
HNRNPUL1     2-0142-004chr19:
41812505-41812505
CTUTR3De novo--Yuen2017 G
HNRNPUL1     12462.p1chr19:
41800478-41800478
CTexonicDe novononsynonymous SNVNM_001301016
NM_007040
NM_144732
c.C1138T
c.C1405T
c.C1105T
p.R380W
p.R469W
p.R369W
22.7-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
HNRNPUL1     228_8_a.2.1chr19:
41774133-41774133
AGexonicUnknownnonsynonymous SNVNM_001301016
NM_007040
NM_144732
c.A34G
c.A301G
c.A1G
p.M12V
p.M101V
p.M1V
14.6-Wang2020 T
Wang2020 T
HNRNPUL1     SD0379.p1chr19:
41811582-41811582
CTexonicMaternalnonsynonymous SNVNM_001301016
NM_007040
NM_144732
c.C1997T
c.C2264T
c.C1964T
p.P666L
p.P755L
p.P655L
15.241.65E-5Wang2020 T
Wang2020 T
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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