Variant Results

or

Results for "HNRNPU"

Variant Events: 24

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

M20402

chr1:
245020950-245020950

G

A

exonic

Paternal

nonsynonymous SNV

NM_004501
NM_031844

c.C1507T
c.C1564T

p.P503S
p.P522S

33.0

-

Guo2018 T
Wang2016 T

HNRNPU

SP0060580

chr1:
245018700-245018700

T

C

intronic

De novo

-

Fu2022 E

HNRNPU

2-1480-003

chr1:
245044179-245044179

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

HNRNPU

SP0225983

chr1:
245027280-245027280

G

A

exonic

De novo

synonymous SNV

NM_004501
NM_031844

c.C330T
c.C330T

p.N110N
p.N110N

-

Trost2022 G

HNRNPU

SP0236435

chr1:
245027257-245027257

G

T

exonic

De novo

stopgain

NM_004501
NM_031844

c.C353A
c.C353A

p.S118X
p.S118X

37.0

-

Trost2022 G

HNRNPU

CC1358_201

chr1:
245027694-245027694

C

T

UTR5

De novo

-

Fu2022 E

HNRNPU

1-0652-004

chr1:
245035918-245035918

C

T

intergenic

De novo

-

Yuen2017 G

HNRNPU

AGRE_04C29746

chr1:
245018334-245018334

G

A

exonic

De novo

stopgain

NM_004501
NM_031844

c.C2308T
c.C2365T

p.R770X
p.R789X

42.0

-

Wang2020 T

HNRNPU

AU2499301

chr1:
245022119-245022119

T

C

exonic

nonsynonymous SNV

NM_004501
NM_031844

c.A1085G
c.A1142G

p.Y362C
p.Y381C

21.7

-

Zhou2022 GE

HNRNPU

1-0736-003

chr1:
245117160-245117160

T

A

intergenic

De novo

-

Yuen2017 G

HNRNPU

ACGC_HEN428.p1

chr1:
245019928-245019929

CT

C

splicing

Maternal

splicing

-

Wang2020 T

HNRNPU

08C74541

chr1:
245022119-245022119

T

C

exonic

De novo

nonsynonymous SNV

NM_004501
NM_031844

c.A1085G
c.A1142G

p.Y362C
p.Y381C

21.7

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

HNRNPU

M08566

chr1:
245021539-245021539

T

C

exonic

Paternal

nonsynonymous SNV

NM_004501
NM_031844

c.A1211G
c.A1268G

p.K404R
p.K423R

33.0

2.0E-4

Guo2018 T
Wang2016 T

HNRNPU

SP0023172

chr1:
245027102-245027102

G

A

exonic

De novo

stopgain

NM_004501
NM_031844

c.C508T
c.C508T

p.Q170X
p.Q170X

37.0

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

HNRNPU

13896.p1

chr1:
245027141-245027141

C

G

exonic

Unknown, De novo

nonsynonymous SNV

NM_004501
NM_031844

c.G469C
c.G469C

p.G157R
p.G157R

12.79

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Wang2020 T
Zhou2022 GE

HNRNPU

Leuven_256031

chr1:
245022642-245022644

GTA

G

exonic

Unknown

frameshift deletion

NM_004501
NM_031844

c.993_994del
c.1050_1051del

p.Y331fs
p.Y350fs

-

Wang2020 T

HNRNPU

SP0014959

chr1:
245026983-245026983

C

T

exonic

Mosaic

synonymous SNV

NM_004501
NM_031844

c.G627A
c.G627A

p.Q209Q
p.Q209Q

-

1.827E-5

Feliciano2019 E

HNRNPU

2-0202-004

chr1:
245104957-245104957

A

G

intergenic

De novo

-

Yuen2017 G

HNRNPU

10C108344

chr1:
245027251-245027251

G

A

exonic

De novo

nonsynonymous SNV

NM_004501
NM_031844

c.C359T
c.C359T

p.P120L
p.P120L

14.13

-

Lim2017 E

HNRNPU

Leuven2_80575830

chr1:
245027275-245027275

G

GC

exonic

De novo

frameshift insertion

NM_004501
NM_031844

c.334dupG
c.334dupG

p.A112fs
p.A112fs

-

Wang2020 T

HNRNPU

2-0244-003

chr1:
245013832-245013833

GG

AT

UTR3

De novo

-

Trost2022 G

HNRNPU

SSC09263

chr1:
245027141-245027141

C

G

exonic

De novo

nonsynonymous SNV

NM_004501
NM_031844

c.G469C
c.G469C

p.G157R
p.G157R

12.79

-

Fu2022 E
Lim2017 E
Trost2022 G

HNRNPU

5-0133-003

chr1:
245023470-245023470

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

HNRNPU

80001104736

chr1:
245025762-245025768

CAAGTAT

C

exonic

De novo

nonframeshift deletion

NM_004501
NM_031844

c.815_820del
c.872_877del

p.272_274del
p.291_293del

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

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
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