Variant Results

or

or

Results for "PUM1"

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

PUM1

1-0161-003

chr1:
31421422-31421426

ACCCC

GTGGCGT

intronic

De novo

-

-

Trost2022 G

PUM1

2-1068-003

chr1:
31419564-31419564

G

A

intronic

De novo

-

-

Trost2022 G

PUM1

AU024105

chr1:
31543004-31543004

A

G

intergenic

De novo

-

-

Yuen2017 G

PUM1

MT_22.3

chr1:
31443580-31443580

C

T

intronic

De novo

-

-

Trost2022 G

PUM1

5-1003-003

chr1:
31443074-31443074

A

C

intronic

De novo

-

-

Trost2022 G

PUM1

MT_17.3

chr1:
31417093-31417093

G

A

intronic

De novo

-

-

Trost2022 G

PUM1

1-1123-003

chr1:
31404100-31404100

A

G

downstream

De novo

-

-

Trost2022 G

PUM1

MSSNG00366-003

chr1:
31417592-31417592

T

C

intronic

De novo

-

-

Trost2022 G

PUM1

3-0654-000

chr1:
31417250-31417254

AAAAC

A

intronic

De novo

-

-

Trost2022 G

PUM1

2-1137-003

chr1:
31634181-31634181

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

PUM1

1-0664-003A

chr1:
31521823-31521823

C

G

intronic

De novo

-

-

Trost2022 G

PUM1

AU2308301

chr1:
31518940-31518941

GA

G

intronic

De novo

-

-

Trost2022 G

PUM1

15542-26229

chr1:
31414077-31414077

C

A

exonic

Inherited

nonsynonymous SNV

NM_001020658
NM_014676

c.G3163T
c.G3157T

p.G1055C
p.G1053C

32.0

-

Callaghan2019 G

PUM1

1-0278-003A

chr1:
31538789-31538789

C

G

upstream

De novo

-

-

Trost2022 G

PUM1

09C85235

chr1:
31437728-31437728

G

A

exonic

De novo

nonsynonymous SNV

NM_001020658
NM_014676

c.C2116T
c.C2116T

p.R706C
p.R706C

19.32

-

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

PUM1

1-0661-003

chr1:
31466601-31466601

C

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PUM1

5-1003-003

chr1:
31449204-31449204

G

A

intronic

De novo

-

-

Trost2022 G

PUM1

MSSNG00388-003

chr1:
31444007-31444007

T

C

intronic

De novo

-

-

Trost2022 G

PUM1

MSSNG00128-003

chr1:
31508886-31508886

T

C

intronic

De novo

-

-

Trost2022 G

PUM1

2-0205-003

chr1:
31471543-31471543

C

G

intronic

De novo

-

-

Trost2022 G

PUM1

SP0081836

chr1:
31538537-31538537

T

G

UTR5

De novo

16.31

Fu2022 E
Trost2022 G
Zhou2022 GE

PUM1

SP0005799

chr1:
31465457-31465457

C

T

exonic

De novo

nonsynonymous SNV

NM_001020658
NM_014676

c.G938A
c.G938A

p.G313D
p.G313D

27.9

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PUM1

2-1005-003

chr1:
31534279-31534279

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PUM1

SP0119749

chr1:
31414948-31414948

G

C

exonic

De novo

nonsynonymous SNV

NM_001020658
NM_014676

c.C3017G
c.C3011G

p.P1006R
p.P1004R

22.6

-

Antaki2022 GE
Fu2022 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
Curation notes	View
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