Variant Results

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Results for "GLIPR1L2"

Variant Events: 15

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

GLIPR1L2

SP0032387

chr12:
75785164-75785164

C

G

intronic

De novo

-

Fu2022 E

GLIPR1L2

5-0105-003

chr12:
75787140-75787140

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GLIPR1L2

AC02-1198-01

chr12:
75785155-75785155

A

C

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

GLIPR1L2

1-0636-003

chr12:
75809867-75809868

AT

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GLIPR1L2

AU3809302

chr12:
75793745-75793745

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GLIPR1L2

11432.p1

chr12:
75796795-75796795

A

C

intronic

De novo

14.2

-

Turner2017 G
Wilfert2021 G

GLIPR1L2

REACH000171

chr12:
75816063-75816063

A

C

intronic

De novo

-

-

Trost2022 G

GLIPR1L2

1-0368-004

chr12:
75824461-75824461

A

T

intronic

De novo

-

-

Trost2022 G

GLIPR1L2

REACH000341

chr12:
75792965-75792965

A

C

intronic

De novo

-

-

Trost2022 G

GLIPR1L2

mAGRE5590

chr12:
75824909-75824909

C

T

exonic

Paternal

stopgain

NM_001270396

c.C1003T

p.Q335X

4.72

Cirnigliaro2023 G

GLIPR1L2

2-1724-003

chr12:
75796731-75796731

A

G

intronic

De novo

-

-

Trost2022 G

GLIPR1L2

mAGRE5589

chr12:
75824909-75824909

C

T

exonic

Paternal

stopgain

NM_001270396

c.C1003T

p.Q335X

4.72

Cirnigliaro2023 G

GLIPR1L2

AU055004

chr12:
75870945-75870945

A

C

intergenic

De novo

-

-

Yuen2017 G

GLIPR1L2

AU4013302

chr12:
75788485-75788485

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GLIPR1L2

1-0460-003

chr12:
75804462-75804462

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

Source Variant Information

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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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