Variant Results

or

Results for "ERMP1"

Variant Events: 12

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

ERMP1

2-1318-004

chr9:
5824141-5824141

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ERMP1

SP0005315

chr9:
5805258-5805258

T

A

intronic

De novo

-

Fu2022 E

ERMP1

3-0439-000

chr9:
5816992-5816992

G

A

intronic

De novo

-

Yuen2016 G

ERMP1

AU3779302

chr9:
5796905-5796911

AAAACTG

A

intronic

De novo

-

Trost2022 G

ERMP1

AU4467302

Complex Event; expand row to view variants

De novo

-

Yuen2017 G
Yuen2017 G

ERMP1

AU009805

chr9:
5788657-5788657

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ERMP1

AU3779302

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

ERMP1

3-0153-000

chr9:
5820591-5820591

A

T

intronic

De novo

-

Trost2022 G

ERMP1

mAGRE2227

chr9:
5830862-5830862

T

TA

exonic

Paternal

stopgain

NM_024896

c.504dupT

p.S169_I170delinsX

-

1.0E-4

Cirnigliaro2023 G

ERMP1

1-0834-003

chr9:
5794338-5794338

G

T

intronic

De novo

-

Yuen2017 G

ERMP1

mAGRE1875

chr9:
5830862-5830862

T

TA

exonic

Paternal

stopgain

NM_024896

c.504dupT

p.S169_I170delinsX

-

1.0E-4

Cirnigliaro2023 G

ERMP1

NP116

chr9:
5805684-5805684

C

T

exonic

De novo

synonymous SNV

NM_024896

c.G1650A

p.A550A

-

3.3E-5

Fu2022 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

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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