Variant Results

or

or

Results for "SIRPG"

Variant Events: 19

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

SIRPG

iHART3094

chr20:
1629720-1629721

TG

T

exonic

Paternal

frameshift deletion

NM_001039508
NM_018556
NM_080816

c.407delC
c.407delC
c.407delC

p.P136fs
p.P136fs
p.P136fs

-

Ruzzo2019 G

SIRPG

AU027506

chr20:
1657749-1657749

G

T

intergenic

De novo

-

-

Yuen2017 G

SIRPG

mAGRE3095

chr20:
1629720-1629721

TG

T

exonic

Paternal

frameshift deletion

NM_001039508
NM_018556
NM_080816

c.407delC
c.407delC
c.407delC

p.P136fs
p.P136fs
p.P136fs

-

Cirnigliaro2023 G

SIRPG

mAGRE3094

chr20:
1629720-1629721

TG

T

exonic

Paternal

frameshift deletion

NM_001039508
NM_018556
NM_080816

c.407delC
c.407delC
c.407delC

p.P136fs
p.P136fs
p.P136fs

-

Cirnigliaro2023 G

SIRPG

AU3997302

chr20:
1616832-1616832

A

T

splicing

Maternal

splicing

16.23

Cirnigliaro2023 G

SIRPG

AU3997301

chr20:
1616832-1616832

A

T

splicing

Maternal

splicing

16.23

Cirnigliaro2023 G

SIRPG

AU4070301

chr20:
1715184-1715184

G

A

intergenic

De novo

-

-

Yuen2017 G

SIRPG

5-5064-003

chr20:
1633122-1633122

G

A

intronic

De novo

-

-

Trost2022 G

SIRPG

3-0103-000

chr20:
1630843-1630843

C

T

intronic

De novo

-

-

Trost2022 G

SIRPG

5-0103-003

chr20:
1668906-1668906

T

A

intergenic

De novo

-

-

Yuen2017 G

SIRPG

iHART3095

chr20:
1629720-1629721

TG

T

exonic

Paternal

frameshift deletion

NM_001039508
NM_018556
NM_080816

c.407delC
c.407delC
c.407delC

p.P136fs
p.P136fs
p.P136fs

-

Ruzzo2019 G

SIRPG

2-1105-003

chr20:
1609717-1609717

A

G

downstream

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

SIRPG

2-1297-004

chr20:
1683204-1683204

C

T

intergenic

De novo

-

-

Yuen2017 G

SIRPG

mAGRE6059

chr20:
1616007-1616007

G

T

exonic

Paternal

stopgain

NM_018556

c.C987A

p.C329X

21.8

Cirnigliaro2023 G

SIRPG

1-0490-003

chr20:
1749820-1749820

C

T

intergenic

De novo

-

-

Yuen2017 G

SIRPG

mAGRE1630

chr20:
1616007-1616007

G

T

exonic

Maternal

stopgain

NM_018556

c.C987A

p.C329X

21.8

Cirnigliaro2023 G

SIRPG

AU3713301

chr20:
1616007-1616007

G

T

exonic

Paternal

stopgain

NM_018556

c.C987A

p.C329X

21.8

Cirnigliaro2023 G

SIRPG

AU4067303

chr20:
1660886-1660886

G

C

intergenic

De novo

-

-

Yuen2017 G

SIRPG

1-0677-003

chr20:
1748167-1748167

C

T

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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