Variant Results

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or

Results for "EPS15L1"

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

EPS15L1

1-0763-004

chr19:
16488077-16488077

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

EPS15L1

1-0113-003

chr19:
16510391-16510391

T

C

intronic

De novo

-

-

Yuen2016 G

EPS15L1

3-0428-000

chr19:
16562238-16562238

A

G

intronic

De novo

-

-

Yuen2016 G

EPS15L1

2-1519-006

chr19:
16548305-16548305

G

A

intronic

De novo

-

-

Trost2022 G

EPS15L1

SP0089066

chr19:
16504774-16504775

TC

T

exonic

De novo

frameshift deletion

NM_001258374
NM_001258375
NM_021235

c.1953delG
c.1953delG
c.1953delG

p.Q651fs
p.Q651fs
p.Q651fs

-

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

EPS15L1

SP0230812

chr19:
16553013-16553013

C

T

exonic

De novo

synonymous SNV

NM_001258374
NM_001258375
NM_001258376
NM_021235

c.G51A
c.G51A
c.G51A
c.G51A

p.S17S
p.S17S
p.S17S
p.S17S

-

Trost2022 G

EPS15L1

3-0459-000

chr19:
16530294-16530295

GC

G

intronic

De novo

-

-

Trost2022 G

EPS15L1

MSSNG00374-003

chr19:
16533184-16533184

G

C

intronic

De novo

-

-

Trost2022 G

EPS15L1

1-0564-003

chr19:
16564473-16564473

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

EPS15L1

5-5146-004

chr19:
16474524-16474524

C

A

intronic

De novo

-

-

Trost2022 G

EPS15L1

AU2186301

chr19:
16487756-16487756

A

G

intronic

De novo

-

-

Trost2022 G

EPS15L1

111296

chr19:
16466547-16466547

G

T

exonic

nonsynonymous SNV

NM_001258374

c.C2702A

p.A901E

24.7

-

Woodbury-Smith2022 E

EPS15L1

MSSNG00121-003

chr19:
16554892-16554892

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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