Variant Results

or

Results for "VWCE"

Variant Events: 17

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

VWCE

1-0465-003a

chr11:
61036102-61036102

G

A

intronic

De novo

-

Yuen2017 G

VWCE

1-0465-003

chr11:
61036102-61036102

G

A

intronic

De novo

-

Yuen2017 G

VWCE

7-0334-003

chr11:
61047328-61047328

G

A

intronic

De novo

-

Trost2022 G

VWCE

1-0803-003

chr11:
61050428-61050428

G

A

intronic

De novo

-

Trost2022 G

VWCE

1-0465-003A

chr11:
61036102-61036102

G

A

intronic

De novo

-

Trost2022 G

VWCE

SP0061418

chr11:
61049252-61049252

G

T

intronic

De novo

-

Fu2022 E
Trost2022 G
Zhou2022 GE

VWCE

SP0119828

chr11:
61026806-61026806

G

A

intronic

De novo

-

2.814E-5

Fu2022 E
Trost2022 G

VWCE

6585

chr11:
61026394-61026394

C

T

exonic

De novo

nonsynonymous SNV

NM_152718

c.G2621A

p.R874H

10.22

1.847E-5

Fu2022 E

VWCE

AU017703

chr11:
61065831-61065831

C

T

intergenic

De novo

-

Yuen2017 G

VWCE

MSSNG00162-003

chr11:
61059800-61059800

G

C

intronic

De novo

-

Trost2022 G

VWCE

2-0070-004

chr11:
61053956-61053956

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

VWCE

11120.p1

chr11:
61026394-61026394

C

T

exonic

De novo

nonsynonymous SNV

NM_152718

c.G2621A

p.R874H

10.22

1.847E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

VWCE

2-0070-004

chr11:
61052994-61052994

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

VWCE

11074_p1

chr11:
61050275-61050275

C

G

exonic

De novo

nonsynonymous SNV

NM_152718

c.G644C

p.R215P

15.11

1.648E-5

Fu2022 E

VWCE

SP0013003

chr11:
61053874-61053874

G

A

exonic

De novo

synonymous SNV

NM_152718

c.C453T

p.C151C

-

2.481E-5

Trost2022 G

VWCE

11074.p1

chr11:
61050275-61050275

C

G

exonic

Mosaic Pat., De novo

nonsynonymous SNV

NM_152718

c.G644C

p.R215P

15.11

1.648E-5

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

VWCE

SP0181472

chr11:
61058239-61058239

T

A

intronic

De novo

-

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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