Variant Results

or

or

Results for "GLRB"

Variant Events: 16

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

GLRB

12163.p1

chr4:
158065056-158065056

C

T

exonic

De novo

synonymous SNV

NM_000824
NM_001166060
NM_001166061

c.C849T
c.C849T
c.C849T

p.L283L
p.L283L
p.L283L

-

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

GLRB

5-0017-004

chr4:
158110354-158110354

A

AT

intergenic

De novo

-

-

Yuen2017 G

GLRB

2-1562-004

chr4:
158032218-158032218

C

CA

intronic

De novo

-

-

Yuen2017 G

GLRB

12163_p1

chr4:
158065056-158065056

C

T

exonic

De novo

synonymous SNV

NM_000824
NM_001166060
NM_001166061

c.C849T
c.C849T
c.C849T

p.L283L
p.L283L
p.L283L

-

-

Fu2022 E

GLRB

A17

chr4:
158130670-158130670

C

T

intergenic

De novo

-

-

Wu2018 G

GLRB

SP0034783

chr4:
158091571-158091572

TA

T

intronic

De novo

-

-

Fu2022 E

GLRB

2-0242-005

chr4:
158131160-158131160

G

A

intergenic

De novo

-

-

Yuen2017 G

GLRB

1-0862-003

chr4:
158006828-158006828

T

TTCACAAAAAACCCCA

intronic

De novo

-

-

Yuen2017 G

GLRB

2-1178-003

chr4:
158069077-158069077

A

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

GLRB

AU047703

chr4:
158078489-158078489

G

A

intronic

De novo

-

-

Yuen2017 G

GLRB

2-0278-003

chr4:
158046297-158046297

A

C

intronic

De novo

-

-

Yuen2017 G

GLRB

1-0464-003

chr4:
158070557-158070557

G

T

intronic

De novo

-

-

Yuen2017 G

GLRB

1-0025-004

chr4:
158029735-158029735

C

G

intronic

De novo

-

-

Yuen2017 G

GLRB

11676.p1

chr4:
158091801-158091801

G

A

exonic

Mosaic

nonsynonymous SNV

NM_000824
NM_001166060

c.G1415A
c.G1415A

p.R472Q
p.R472Q

34.0

-

Krupp2017 E

GLRB

2-1089-004

chr4:
158076546-158076547

AG

A

intronic

De novo

-

-

Yuen2017 G

GLRB

AU3779302

chr4:
158088112-158088112

A

G

intronic

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
	More