Variant Results

or

Results for "PM20D1"

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

PM20D1

SP0144528

chr1:
205801748-205801748

C

T

exonic

De novo

synonymous SNV

NM_152491

c.G1263A

p.P421P

-

1.649E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

PM20D1

2-1086-004

chr1:
205819154-205819154

A

G

exonic

De novo

nonsynonymous SNV

NM_152491

c.T47C

p.L16P

15.61

-

Trost2022 G
Yuen2015 G

PM20D1

mAGRE4307

chr1:
205819077-205819081

GAGAA

G

exonic

Maternal

frameshift deletion

NM_152491

c.120_123del

p.P40fs

-

6.596E-5

Cirnigliaro2023 G

PM20D1

AU1987304

chr1:
205817898-205817898

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PM20D1

12055.p1

chr1:
205797834-205797834

A

G

exonic

De novo

nonsynonymous SNV

NM_152491

c.T1423C

p.Y475H

14.02

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

PM20D1

3-0019-000

chr1:
205797855-205797855

C

T

exonic

De novo

nonsynonymous SNV

NM_152491

c.G1402A

p.E468K

18.39

-

Trost2022 G
Zhou2022 GE

PM20D1

SP0079441

chr1:
205809374-205809374

A

C

intronic

De novo

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PM20D1

SP0129843

chr1:
205819189-205819189

C

G

exonic

De novo

synonymous SNV

NM_152491

c.G12C

p.R4R

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PM20D1

SSC07586

chr1:
205797834-205797834

A

G

exonic

De novo

nonsynonymous SNV

NM_152491

c.T1423C

p.Y475H

14.02

-

Fu2022 E
Lim2017 E
Trost2022 G

PM20D1

AU4237301

chr1:
205820797-205820797

A

C

intergenic

De novo

-

Yuen2017 G

PM20D1

mAGRE4234

chr1:
205813977-205813977

G

A

exonic

Maternal

stopgain

NM_152491

c.C538T

p.R180X

28.7

2.487E-5

Cirnigliaro2023 G

PM20D1

mAGRE5509

chr1:
205811880-205811880

C

A

splicing

Maternal

splicing

20.2

-

Cirnigliaro2023 G

PM20D1

GM181126

chr1:
205812852-205812852

T

C

exonic

De novo

nonsynonymous SNV

NM_152491

c.A770G

p.H257R

21.3

-

Fu2022 E

PM20D1

151454

chr1:
205811852-205811855

TATG

T

exonic

De novo

nonframeshift deletion

NM_152491

c.852_854del

p.284_285del

-

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
Curation notes	View
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