Variant Results

or

Results for "HNRNPF"

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

HNRNPF

1-0215-006

chr10:
43924664-43924664

A

T

intergenic

De novo

-

Yuen2017 G

HNRNPF

AU3399302

chr10:
43924453-43924453

G

T

intergenic

De novo

-

Yuen2017 G

HNRNPF

NP152

chr10:
43882148-43882148

C

T

exonic

De novo

synonymous SNV

NM_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-5

Fu2022 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

HNRNPF

5311

chr10:
43883191-43883191

T

C

exonic

De novo

nonsynonymous SNV

NM_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

-

Fu2022 E
Trost2022 G

HNRNPF

1-0067-005

chr10:
43896613-43896616

CACC

AAAAAAA

intronic

De novo

-

Trost2022 G

HNRNPF

AU3907302

chr10:
43887327-43887327

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

HNRNPF

7-0357-004

chr10:
43883212-43883212

C

T

exonic

De novo

nonsynonymous SNV

NM_001098208
NM_001098204
NM_001098205
NM_001098206
NM_001098207
NM_004966

c.G121A
c.G121A
c.G121A
c.G121A
c.G121A
c.G121A

p.A41T
p.A41T
p.A41T
p.A41T
p.A41T
p.A41T

1.803

2.471E-5

Trost2022 G

HNRNPF

Lim2017:5311

chr10:
43883191-43883191

T

C

exonic

De novo

nonsynonymous SNV

NM_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

1-0972-003

chr10:
43882699-43882699

G

A

exonic

Unknown, De novo

nonsynonymous SNV

NM_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

-

Trost2022 G
Wang2020 T
Yuen2017 G
Zhou2022 GE

HNRNPF

11043.p1

chr10:
43883191-43883191

T

C

exonic

Unknown, De novo

nonsynonymous SNV

NM_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
Zhou2022 GE

HNRNPF

3-0209-000

chr10:
43921790-43921790

T

A

intergenic

De novo

-

Yuen2017 G

Source Variant Information

, -

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	View
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