Variant Results

or

or

Results for "ERN1"

Variant Events: 15

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

ERN1

1-0215-006

chr17:
62148672-62148672

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ERN1

5-0114-003

chr17:
62136374-62136374

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ERN1

SP0057081

chr17:
62133041-62133041

C

T

exonic

De novo

nonsynonymous SNV

NM_001433

c.G1666A

p.D556N

16.62

Fu2022 E
Trost2022 G
Zhou2022 GE

ERN1

1-1063-004

chr17:
62169569-62169569

C

A

intronic

De novo

-

-

Trost2022 G

ERN1

1-0224-004

chr17:
62194497-62194497

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ERN1

2-1338-003

chr17:
62200533-62200533

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ERN1

mAGRE2416

chr17:
62149416-62149416

T

A

exonic

Paternal

stopgain

NM_001433

c.A403T

p.K135X

39.0

-

Cirnigliaro2023 G

ERN1

mAGRE2415

chr17:
62149416-62149416

T

A

exonic

Paternal

stopgain

NM_001433

c.A403T

p.K135X

39.0

-

Cirnigliaro2023 G

ERN1

iHART2415

chr17:
62149416-62149416

T

A

exonic

Paternal

stopgain

NM_001433

c.A403T

p.K135X

39.0

-

Ruzzo2019 G

ERN1

iHART2416

chr17:
62149416-62149416

T

A

exonic

Paternal

stopgain

NM_001433

c.A403T

p.K135X

39.0

-

Ruzzo2019 G

ERN1

4-0023-003

chr17:
62206297-62206299

CAT

C

intronic

De novo

-

-

Trost2022 G

ERN1

SP0130992

chr17:
62121466-62121466

T

C

exonic

De novo

nonsynonymous SNV

NM_001433

c.A2816G

p.H939R

2.974

Trost2022 G
Zhou2022 GE

ERN1

AU038204

chr17:
62136874-62136874

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ERN1

133341

chr17:
62130664-62130664

G

C

exonic

nonsynonymous SNV

NM_001433

c.C2021G

p.S674W

28.3

-

Woodbury-Smith2022 E

ERN1

G01-GEA-110-HI

chr17:
62175872-62175872

C

T

intronic

De novo

-

-

Satterstrom2020 E
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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