Variant Results

or

Results for "HNRNPR"

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

HNRNPR

ASC_NP254

chr1:
23645014-23645014

C

T

exonic

De novo

nonsynonymous SNV

NM_001297621
NM_001297622
NM_001102397
NM_001102399
NM_001297620
NM_001102398
NM_005826

c.G499A
c.G562A
c.G676A
c.G685A
c.G865A
c.G988A
c.G979A

p.D167N
p.D188N
p.D226N
p.D229N
p.D289N
p.D330N
p.D327N

36.0

-

Fu2022 E

HNRNPR

7-0357-004

chr1:
23670857-23670857

G

A

UTR5

De novo

-

Trost2022 G

HNRNPR

12568.p1

chr1:
23675035-23675035

T

C

intergenic

De novo

-

Turner2016 G

HNRNPR

AU026A

chr1:
23637156-23637156

G

A

exonic

De novo

nonsynonymous SNV

NM_001297621
NM_001297622
NM_001102397
NM_001102399
NM_001297620
NM_001102398
NM_005826

c.C1213T
c.C1276T
c.C1390T
c.C1399T
c.C1579T
c.C1702T
c.C1693T

p.R405C
p.R426C
p.R464C
p.R467C
p.R527C
p.R568C
p.R565C

11.78

8.251E-6

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

HNRNPR

SP0026651

chr1:
23667318-23667318

G

A

intronic

De novo

-

Trost2022 G

HNRNPR

MSSNG00347-003

chr1:
23632432-23632433

CT

C

UTR3

De novo

-

Trost2022 G

HNRNPR

12087.p1

chr1:
23637301-23637301

C

G

exonic

Unknown, De novo

nonsynonymous SNV

NM_001297621
NM_001297622
NM_001102397
NM_001102399
NM_001297620
NM_001102398
NM_005826

c.G1068C
c.G1131C
c.G1245C
c.G1254C
c.G1434C
c.G1557C
c.G1548C

p.R356S
p.R377S
p.R415S
p.R418S
p.R478S
p.R519S
p.R516S

1.23

-

Krumm2015 E
Satterstrom2020 E
Wang2020 T
Zhou2022 GE

HNRNPR

2-1690-003

chr1:
23681830-23681830

G

A

intergenic

De novo

-

Yuen2017 G

HNRNPR

1569-22238

chr1:
23648092-23648092

C

T

exonic

Inherited

nonsynonymous SNV

NM_001297621
NM_001297622
NM_001102397
NM_001102399
NM_001297620
NM_001102398
NM_005826

c.G260A
c.G323A
c.G437A
c.G437A
c.G626A
c.G740A
c.G740A

p.R87K
p.R108K
p.R146K
p.R146K
p.R209K
p.R247K
p.R247K

33.0

-

Callaghan2019 G

HNRNPR

AU1725302

chr1:
23680228-23680228

C

T

intergenic

De novo

-

Yuen2017 G

HNRNPR

1-1063-003

chr1:
23650176-23650176

G

A

exonic

De novo

nonsynonymous SNV

NM_001297622
NM_001102397
NM_001102399
NM_001297620
NM_001102398
NM_005826

c.C131T
c.C245T
c.C245T
c.C434T
c.C548T
c.C548T

p.P44L
p.P82L
p.P82L
p.P145L
p.P183L
p.P183L

32.0

-

Trost2022 G
Zhou2022 GE

HNRNPR

5-5031-003

chr1:
23637504-23637504

G

A

exonic

De novo

nonsynonymous SNV

NM_001297621
NM_001297622
NM_001102397
NM_001102399
NM_001297620
NM_001102398
NM_005826

c.C865T
c.C928T
c.C1042T
c.C1051T
c.C1231T
c.C1354T
c.C1345T

p.R289W
p.R310W
p.R348W
p.R351W
p.R411W
p.R452W
p.R449W

11.32

8.261E-6

Trost2022 G
Zhou2022 GE

HNRNPR

SSC03844

chr1:
23637301-23637301

C

G

exonic

De novo

nonsynonymous SNV

NM_001297621
NM_001297622
NM_001102397
NM_001102399
NM_001297620
NM_001102398
NM_005826

c.G1068C
c.G1131C
c.G1245C
c.G1254C
c.G1434C
c.G1557C
c.G1548C

p.R356S
p.R377S
p.R415S
p.R418S
p.R478S
p.R519S
p.R516S

1.23

-

Fu2022 E
Lim2017 E
Trost2022 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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