Variant Results

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or

Results for "GLB1L2"

Variant Events: 18

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

GLB1L2

AU039903

chr11:
134212766-134212766

C

A

exonic

Unknown

nonsynonymous SNV

NM_138342

c.C205A

p.H69N

16.19

-

Chahrour2012 E

GLB1L2

AU3912303

chr11:
134229598-134229598

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GLB1L2

2-1521-003

chr11:
134245201-134245201

C

T

UTR3

De novo

-

-

Trost2022 G
Yuen2017 G

GLB1L2

iHART3298

chr11:
134241378-134241379

CT

C

exonic

Maternal

frameshift deletion

NM_138342

c.1421delT

p.L474fs

-

Ruzzo2019 G

GLB1L2

iHART2086

chr11:
134234285-134234286

AC

A

exonic

Maternal

frameshift deletion

NM_138342

c.798delC

p.N266fs

-

-

Ruzzo2019 G

GLB1L2

iHART2578

chr11:
134241715-134241715

C

T

exonic

Maternal

stopgain

NM_138342

c.C1498T

p.Q500X

34.0

Ruzzo2019 G

GLB1L2

iHART2577

chr11:
134241715-134241715

C

T

exonic

Maternal

stopgain

NM_138342

c.C1498T

p.Q500X

34.0

Ruzzo2019 G

GLB1L2

MSSNG00108-003

chr11:
134222283-134222283

A

T

intronic

De novo

-

-

Trost2022 G

GLB1L2

3-0099-000

chr11:
134228237-134228237

G

T

intronic

De novo

-

-

Trost2022 G

GLB1L2

AU039903

chr11:
134226201-134226201

C

T

exonic

Unknown

nonsynonymous SNV

NM_138342

c.C565T

p.R189C

17.65

Chahrour2012 E

GLB1L2

mAGRE2086

chr11:
134234285-134234286

AC

A

exonic

Maternal

frameshift deletion

NM_138342

c.798delC

p.N266fs

-

-

Cirnigliaro2023 G

GLB1L2

mAGRE2971

chr11:
134217283-134217283

G

T

exonic

De novo

nonsynonymous SNV

NM_138342

c.G514T

p.D172Y

19.12

-

Cirnigliaro2023 G

GLB1L2

mAGRE4803

chr11:
134212594-134212665

CGATCTCTCTGCGGCCCGGAGCCTCCAGGCTCCAGAATGTCTTTGTCTTTCCAGGCTGGACTGGAGCACCCT

C

exonic

Paternal

nonframeshift deletion

NM_138342

c.87_104del

p.29_35del

-

-

Cirnigliaro2023 G

GLB1L2

1-0638-003

chr11:
134221171-134221171

A

C

intronic

De novo

-

-

Yuen2017 G

GLB1L2

10-1120-003A

chr11:
134240531-134240531

T

C

intronic

De novo

-

-

Trost2022 G

GLB1L2

iHART2971

chr11:
134217283-134217283

G

T

exonic

De novo

nonsynonymous SNV

NM_138342

c.G514T

p.D172Y

19.12

-

Ruzzo2019 G

GLB1L2

2-1429-004

chr11:
134242646-134242646

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GLB1L2

AU4235302

chr11:
134241378-134241379

CT

C

exonic

Maternal

frameshift deletion

NM_138342

c.1421delT

p.L474fs

-

Cirnigliaro2023 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
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