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Results for "HNRNPF"

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
HNRNPF     Lim2017:5311chr10:
43883191-43883191
TCexonicDe novononsynonymous SNVNM_001098208
NM_001098204
NM_001098205
NM_001098206
NM_001098207
NM_004966
c.A142G
c.A142G
c.A142G
c.A142G
c.A142G
c.A142G
p.T48A
p.T48A
p.T48A
p.T48A
p.T48A
p.T48A
10.65-Lim2017 E
HNRNPF     1-0215-006chr10:
43924664-43924664
ATintergenicDe novo--Yuen2017 G
HNRNPF     1-0972-003chr10:
43882699-43882699
GAexonicDe novononsynonymous SNVNM_001098208
NM_001098204
NM_001098205
NM_001098206
NM_001098207
NM_004966
c.C634T
c.C634T
c.C634T
c.C634T
c.C634T
c.C634T
p.R212W
p.R212W
p.R212W
p.R212W
p.R212W
p.R212W
14.22-Wang2020 T
Yuen2017 G
HNRNPF     AU3399302chr10:
43924453-43924453
GTintergenicDe novo--Yuen2017 G
HNRNPF     NP152chr10:
43882148-43882148
CTexonicDe novosynonymous SNVNM_001098208
NM_001098204
NM_001098205
NM_001098206
NM_001098207
NM_004966
c.G1185A
c.G1185A
c.G1185A
c.G1185A
c.G1185A
c.G1185A
p.Q395Q
p.Q395Q
p.Q395Q
p.Q395Q
p.Q395Q
p.Q395Q
-1.67E-5Lim2017 E
Satterstrom2020 E
HNRNPF     11043.p1chr10:
43883191-43883191
TCexonicDe novononsynonymous SNVNM_001098208
NM_001098204
NM_001098205
NM_001098206
NM_001098207
NM_004966
c.A142G
c.A142G
c.A142G
c.A142G
c.A142G
c.A142G
p.T48A
p.T48A
p.T48A
p.T48A
p.T48A
p.T48A
10.65-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
HNRNPF     3-0209-000chr10:
43921790-43921790
TAintergenicDe novo--Yuen2017 G
HNRNPF     AU3907302chr10:
43887327-43887327
TCintronicDe 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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