Variant Results

or

or

Results for "YLPM1"

Variant Events: 21

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

YLPM1

SP0051228

chr14:
75283417-75283417

G

A

intronic

De novo

-

-

Fu2022 E

YLPM1

SP0017302

chr14:
75231145-75231145

T

C

intronic

De novo

-

-

Fu2022 E

YLPM1

2-0219-004

chr14:
75278147-75278147

C

CTGCATTG

intronic

De novo

-

-

Yuen2017 G

YLPM1

AU2427303

chr14:
75258919-75258919

T

A

intronic

De novo

-

-

Yuen2017 G

YLPM1

SP0090257

chr14:
75295892-75295892

T

C

intronic

De novo

-

-

Fu2022 E

YLPM1

1-0054-003

chr14:
75277179-75277179

A

G

intronic

De novo

-

-

Yuen2017 G

YLPM1

133-06-105345

chr14:
75265326-75265326

G

A

exonic

De novo

nonsynonymous SNV

NM_019589

c.G3326A

p.R1109Q

15.46

Fu2022 E
Satterstrom2020 E

YLPM1

SP0143930

chr14:
75230122-75230122

C

T

UTR5

De novo

-

-

Fu2022 E

YLPM1

SP0032002

chr14:
75230311-75230311

C

A

exonic

De novo

nonsynonymous SNV

NM_019589

c.C119A

p.T40K

11.84

-

Fu2022 E

YLPM1

DEASD_0346_001

chr14:
75266198-75266198

C

T

exonic

De novo

nonsynonymous SNV

NM_019589

c.C4198T

p.R1400W

16.76

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

YLPM1

TRE_600

chr14:
75248688-75248688

G

C

exonic

De novo

nonsynonymous SNV

NM_019589

c.G1942C

p.A648P

11.69

-

Fu2022 E

YLPM1

AU4243302

chr14:
75276003-75276003

A

G

intronic

De novo

-

-

Yuen2017 G

YLPM1

11947.p1

chr14:
75278299-75278302

AGCG

A

intronic

De novo

-

-

Iossifov2014 E
Kosmicki2017 E

YLPM1

2-1577-003

chr14:
75306736-75306736

C

A

intergenic

De novo

-

-

Yuen2017 G

YLPM1

AU4186302

chr14:
75239147-75239147

C

T

intronic

De novo

-

-

Yuen2017 G

YLPM1

156-3925

chr14:
75248524-75248524

C

A

exonic

Inherited

nonsynonymous SNV

NM_019589

c.C1778A

p.P593Q

13.95

Patowary2019 E

YLPM1

427-09-112186

chr14:
75265702-75265702

T

C

exonic

De novo

synonymous SNV

NM_019589

c.T3702C

p.Y1234Y

-

-

Fu2022 E
Satterstrom2020 E

YLPM1

AU3712301

chr14:
75277280-75277280

G

C

intronic

De novo

-

-

Yuen2017 G

YLPM1

4651_16au

chr14:
75265038-75265038

A

G

exonic

De novo

nonsynonymous SNV

NM_019589

c.A3038G

p.N1013S

4.128

-

Fu2022 E
Satterstrom2020 E

YLPM1

TAS_F5017X

chr14:
75283895-75283895

A

G

splicing

De novo

splicing

20.4

-

Fu2022 E
Satterstrom2020 E

YLPM1

SP0089388

chr14:
75277107-75277107

C

T

exonic

De novo

stopgain

NM_019589

c.C5212T

p.R1738X

42.0

-

Antaki2022 GE
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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