Variant Results

or

Results for "PIGG"

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

PIGG

SSC04349

chr4:
517523-517523

C

T

exonic

De novo

synonymous SNV

NM_001289052
NM_001127178
NM_001289051
NM_017733

c.C1491T
c.C1890T
c.C1623T
c.C1866T

p.V497V
p.V630V
p.V541V
p.V622V

-

1.654E-5

Fu2022 E
Lim2017 E
Trost2022 G

PIGG

2-0142-004

chr4:
521377-521378

AG

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PIGG

AU005214

chr4:
593679-593679

A

G

intergenic

De novo

-

Yuen2017 G

PIGG

mAGRE4303

chr4:
493155-493160

TGTTGC

T

exonic

Paternal

frameshift deletion

NM_001127178
NM_001289052
NM_017733

c.32_36del
c.32_36del
c.32_36del

p.C11fs
p.C11fs
p.C11fs

-

Cirnigliaro2023 G

PIGG

SP0078781

chr4:
515616-515616

C

G

exonic

De novo

nonsynonymous SNV

NM_001289052
NM_001127178
NM_001289051
NM_001289053
NM_017733

c.C1101G
c.C1500G
c.C1233G
c.C1233G
c.C1476G

p.F367L
p.F500L
p.F411L
p.F411L
p.F492L

13.83

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PIGG

SP0149908

chr4:
517450-517461

CGTGTGGCCTCT

C

exonic

De novo

frameshift deletion

NM_001289052
NM_001127178
NM_001289051
NM_017733

c.1419_1429del
c.1818_1828del
c.1551_1561del
c.1794_1804del

p.P473fs
p.P606fs
p.P517fs
p.P598fs

-

Fu2022 E
Zhou2022 GE

PIGG

1-0656-003

chr4:
607949-607949

A

G

intergenic

De novo

-

Yuen2017 G

PIGG

1-0158-012

chr4:
529195-529195

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PIGG

AU1894304

chr4:
497172-497172

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PIGG

13701.p1

chr4:
499570-499570

C

T

exonic

Mosaic

synonymous SNV

NM_001127178
NM_001289051
NM_001289053
NM_001289057
NM_017733
NM_001289055

c.C424T
c.C157T
c.C157T
c.C157T
c.C424T
c.C58T

p.L142L
p.L53L
p.L53L
p.L53L
p.L142L
p.L20L

-

Dou2017 E
Krupp2017 E

PIGG

12473.p1

chr4:
517523-517523

C

T

exonic

De novo

synonymous SNV

NM_001289052
NM_001127178
NM_001289051
NM_017733

c.C1491T
c.C1890T
c.C1623T
c.C1866T

p.V497V
p.V630V
p.V541V
p.V622V

-

1.654E-5

Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

PIGG

Wang2023:625

chr4:
494364-494364

C

T

exonic

De novo

nonsynonymous SNV

NM_001127178
NM_001289051
NM_001289052
NM_001289053
NM_001289057
NM_017733

c.C334T
c.C67T
c.C334T
c.C67T
c.C67T
c.C334T

p.P112S
p.P23S
p.P112S
p.P23S
p.P23S
p.P112S

23.6

-

Wang2023 E

PIGG

1-0925-003

chr4:
605366-605370

GCACA

GCACACA

intergenic

De novo

-

Yuen2017 G

PIGG

111311

chr4:
499699-499699

G

T

exonic

nonsynonymous SNV

NM_001127178
NM_001289051
NM_001289053
NM_001289057
NM_017733
NM_001289055

c.G553T
c.G286T
c.G286T
c.G286T
c.G553T
c.G187T

p.V185L
p.V96L
p.V96L
p.V96L
p.V185L
p.V63L

25.6

4.977E-5

Woodbury-Smith2022 E

PIGG

MSSNG00345-003

chr4:
526926-526926

G

A

intronic

De novo

-

Trost2022 G

PIGG

5-0077-004

chr4:
529195-529195

G

C

intronic

De novo

-

Trost2022 G

PIGG

1-0219-003

chr4:
533784-533786

ATC

A

downstream

De novo

-

Trost2022 G
Yuen2017 G

PIGG

10-1104-004

chr4:
506388-506388

A

G

intronic

De novo

-

Trost2022 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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