Variant Results

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or

Results for "HNRNPUL1"

Variant Events: 13

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

10C117850

chr19:
41784944-41784944

G

T

intronic

De novo

-

-

Kosmicki2017 E

HNRNPUL1

2-0242-005

chr19:
41787513-41787513

G

A

intronic

De novo

-

-

Yuen2017 G

HNRNPUL1

AU4028302

chr19:
41785516-41785516

G

T

intronic

De novo

-

-

Yuen2017 G

HNRNPUL1

2-1690-003

chr19:
41809775-41809775

C

T

intronic

De novo

-

-

Yuen2017 G

HNRNPUL1

2-0142-003

chr19:
41812505-41812505

C

T

UTR3

De novo

-

-

Yuen2017 G

HNRNPUL1

12462.p1

chr19:
41800478-41800478

C

T

exonic

De novo, Unknown

nonsynonymous SNV

NM_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

SP0032486

chr19:
41784999-41784999

C

T

exonic

De novo

synonymous SNV

NM_001301016
NM_007040
NM_144732

c.C537T
c.C804T
c.C504T

p.S179S
p.S268S
p.S168S

-

Fu2022 E

HNRNPUL1

SP0098610

chr19:
41770505-41770505

C

T

exonic

De novo

synonymous SNV

NM_007040

c.C97T

p.L33L

-

-

Fu2022 E

HNRNPUL1

ACGC_SD0379.p1

chr19:
41811582-41811582

C

T

exonic

Maternal

nonsynonymous SNV

NM_001301016
NM_007040
NM_144732

c.C1997T
c.C2264T
c.C1964T

p.P666L
p.P755L
p.P655L

15.24

Wang2020 T

HNRNPUL1

ACGC_GX0244.p1

chr19:
41779891-41779891

C

T

exonic

Maternal

nonsynonymous SNV

NM_001301016
NM_007040
NM_144732

c.C310T
c.C577T
c.C277T

p.R104C
p.R193C
p.R93C

27.7

Wang2020 T

HNRNPUL1

Iowa_228_8_a.2.1

chr19:
41774133-41774133

A

G

exonic

Unknown

nonsynonymous SNV

NM_001301016
NM_007040
NM_144732

c.A34G
c.A301G
c.A1G

p.M12V
p.M101V
p.M1V

14.6

-

Wang2020 T

HNRNPUL1

SSC05866

chr19:
41800478-41800478

C

T

exonic

De novo

nonsynonymous SNV

NM_001301016
NM_007040
NM_144732

c.C1138T
c.C1405T
c.C1105T

p.R380W
p.R469W
p.R369W

22.7

-

Fu2022 E
Lim2017 E

HNRNPUL1

2-0142-004

chr19:
41812505-41812505

C

T

UTR3

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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