Variant Results

or

Results for "GIMAP8"

Variant Events: 14

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

GIMAP8

2-1335-004

chr7:
150163076-150163076

G

A

intronic

De novo

-

Yuen2017 G

GIMAP8

1-0291-003

chr7:
150164338-150164338

G

C

exonic

De novo

nonsynonymous SNV

NM_175571

c.G552C

p.E184D

8.315

-

Trost2022 G
Zhou2022 GE

GIMAP8

12740.p1

chr7:
150174231-150174231

C

T

exonic

De novo

nonsynonymous SNV

NM_175571

c.C1361T

p.T454I

12.37

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

GIMAP8

7-0002-003

chr7:
150154037-150154037

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

GIMAP8

mAGRE2424

chr7:
150174857-150174857

A

AT

exonic

Maternal

frameshift insertion

NM_175571

c.1988dupT

p.I663fs

-

Cirnigliaro2023 G

GIMAP8

12740_p1

chr7:
150174231-150174231

C

T

exonic

De novo

nonsynonymous SNV

NM_175571

c.C1361T

p.T454I

12.37

-

Fu2022 E

GIMAP8

SSC07063

chr7:
150164231-150164232

GA

G

exonic

De novo

frameshift deletion

NM_175571

c.446delA

p.E149fs

-

Fu2022 E
Trost2022 G

GIMAP8

2-0223-003

chr7:
150168263-150168263

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GIMAP8

iHART2424

chr7:
150174857-150174857

A

AT

exonic

Maternal

frameshift insertion

NM_175571

c.1988dupT

p.I663fs

-

Ruzzo2019 G

GIMAP8

2-1592-003

chr7:
150147051-150147051

C

T

upstream

De novo

-

Trost2022 G

GIMAP8

MSSNG00418-003

chr7:
150170284-150170284

G

C

intronic

De novo

-

Trost2022 G

GIMAP8

1-0464-003

chr7:
150175801-150175801

G

C

UTR3

De novo

-

Yuen2017 G

GIMAP8

13096.p1

Complex Event; expand row to view variants

De novo

frameshift deletion

NM_175571
NM_175571

c.446delA
c.447delA

p.E149fs
p.E149fs

-

Dong2014 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
Zhou2022 GE

GIMAP8

1-0627-003

chr7:
150190724-150190724

A

G

intergenic

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
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