Variant Results

or

or

Results for "PRTG"

Variant Events: 13

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

PRTG

2-1094-004

chr15:
56064973-56064973

G

C

intergenic

De novo

-

-

Yuen2017 G

PRTG

2-1255-003

chr15:
55994629-55994629

T

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

PRTG

1-0265-004

chr15:
56001420-56001420

A

ATTTC

intronic

De novo

-

-

Yuen2017 G

PRTG

Chen2021:78

chr15:
55912307-55912307

C

A

exonic

Maternal

nonsynonymous SNV

NM_173814

c.G3356T

p.G1119V

17.86

Chen2021 GET

PRTG

AGG0091

chr15:
55976069-55976069

C

T

exonic

De novo

nonsynonymous SNV

NM_173814

c.G458A

p.R153Q

34.0

Fu2022 E
Satterstrom2020 E

PRTG

Chen2021:18

chr15:
55974592-55974592

T

A

exonic

De novo

nonsynonymous SNV

NM_173814

c.A646T

p.S216C

17.75

-

Chen2021 GET

PRTG

1-0563-004

chr15:
55941874-55941874

C

T

intronic

De novo

-

-

Yuen2017 G

PRTG

AU4007301

chr15:
55917991-55917991

T

C

intronic

De novo

-

-

Yuen2017 G

PRTG

Chen2021:78

chr15:
55974597-55974597

C

T

exonic

Paternal

nonsynonymous SNV

NM_173814

c.G641A

p.R214H

13.05

-

Chen2021 GET

PRTG

7-0077-003

chr15:
56110370-56110370

A

C

intergenic

De novo

-

-

Yuen2017 G

PRTG

7-0255-003

chr15:
55964968-55964968

T

C

intronic

De novo

-

-

Yuen2017 G

PRTG

AU3786301

chr15:
56098686-56098686

C

T

intergenic

De novo

-

-

Yuen2017 G

PRTG

SP0041950

chr15:
56035119-56035119

G

A

exonic

De novo

nonsynonymous SNV

NM_173814

c.C11T

p.P4L

13.17

-

Fu2022 E

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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