Variant Results

or

Results for "ERBIN"

Variant Events: 20

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

ERBIN

AU4465303

chr5:
65382041-65382041

G

A

intergenic

De novo

-

Yuen2017 G

ERBIN

2-1353-003

chr5:
65408317-65408331

GCACACACACACACA

GCACACACACACA

intergenic

De novo

-

Yuen2017 G

ERBIN

14304.p1

chr5:
65334296-65334296

C

T

exonic

De novo

nonsynonymous SNV

NM_001006600
NM_001253697
NM_001253698
NM_001253699
NM_001253701
NM_018695

c.C1292T
c.C1292T
c.C1292T
c.C1292T
c.C1292T
c.C1292T

p.P431L
p.P431L
p.P431L
p.P431L
p.P431L
p.P431L

21.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G

ERBIN

219-2257-1

chr5:
65290623-65290623

G

T

exonic

Unknown

nonsynonymous SNV

NM_001006600
NM_001253697
NM_001253698
NM_001253699
NM_001253701
NM_018695

c.G238T
c.G238T
c.G238T
c.G238T
c.G238T
c.G238T

p.D80Y
p.D80Y
p.D80Y
p.D80Y
p.D80Y
p.D80Y

26.2

-

Stessman2017 T

ERBIN

2-1195-003

chr5:
65435456-65435469

GCACACACACACAC

GCACACACACAC

intergenic

De novo

-

Yuen2017 G

ERBIN

2-0304-003

chr5:
65401532-65401532

G

A

intergenic

De novo

-

Yuen2017 G

ERBIN

AU076808

chr5:
65276108-65276108

G

A

intronic

De novo

-

Yuen2017 G

ERBIN

220-9982-202

chr5:
65322133-65322133

G

A

exonic

Unknown

nonsynonymous SNV

NM_001006600
NM_001253697
NM_001253698
NM_001253699
NM_001253701
NM_018695

c.G1024A
c.G1024A
c.G1024A
c.G1024A
c.G1024A
c.G1024A

p.G342R
p.G342R
p.G342R
p.G342R
p.G342R
p.G342R

27.2

-

Stessman2017 T

ERBIN

5-0017-004

chr5:
65436615-65436615

C

A

intergenic

De novo

-

Yuen2017 G

ERBIN

AU0959302

chr5:
65339997-65339997

C

A

exonic

Paternal

stopgain

NM_001006600
NM_001253697
NM_001253698
NM_001253699
NM_001253701
NM_018695

c.C1461A
c.C1461A
c.C1461A
c.C1461A
c.C1461A
c.C1461A

p.Y487X
p.Y487X
p.Y487X
p.Y487X
p.Y487X
p.Y487X

36.0

-

Stessman2017 T

ERBIN

AU3190305

chr5:
65270780-65270780

C

G

intronic

De novo

-

Yuen2017 G

ERBIN

AU0039303

chr5:
65253257-65253257

C

A

intronic

De novo

-

Yuen2017 G

ERBIN

5-0109-003

chr5:
65265616-65265616

A

G

intronic

De novo

-

Yuen2017 G

ERBIN

Viggiano2022:105.3

chr5:
65350373-65350373

G

T

exonic

Paternal

nonsynonymous SNV

NM_001006600
NM_001253697
NM_001253698
NM_001253699
NM_001253701
NM_018695

c.G3227T
c.G3227T
c.G3227T
c.G3227T
c.G3215T
c.G3227T

p.R1076L
p.R1076L
p.R1076L
p.R1076L
p.R1072L
p.R1076L

22.1

-

Viggiano2022 GT

ERBIN

1-0119-004

chr5:
65250144-65250144

A

G

intronic

De novo

-

Yuen2017 G

ERBIN

7-0273-003

chr5:
65250786-65250786

A

G

intronic

De novo

-

Yuen2017 G

ERBIN

NDAR_INVGJ169ZP5_wes1

chr5:
65338903-65338903

A

T

splicing

De novo

splicing

19.68

-

DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E

ERBIN

iHART3227

chr5:
65322152-65322154

CTG

C

exonic

Paternal

frameshift deletion

NM_001006600
NM_001253697
NM_001253698
NM_001253699
NM_001253701
NM_018695

c.1044_1045del
c.1044_1045del
c.1044_1045del
c.1044_1045del
c.1044_1045del
c.1044_1045del

p.T348fs
p.T348fs
p.T348fs
p.T348fs
p.T348fs
p.T348fs

-

Ruzzo2019 G

ERBIN

211-5610-3

chr5:
65350583-65350583

G

A

exonic

Unknown

nonsynonymous SNV

NM_001006600
NM_001253697
NM_001253698
NM_001253699
NM_001253701
NM_018695

c.G3437A
c.G3437A
c.G3437A
c.G3437A
c.G3425A
c.G3437A

p.R1146Q
p.R1146Q
p.R1146Q
p.R1146Q
p.R1142Q
p.R1146Q

24.7

4.128E-5

Stessman2017 T

ERBIN

iHART3230

chr5:
65322152-65322154

CTG

C

exonic

Paternal

frameshift deletion

NM_001006600
NM_001253697
NM_001253698
NM_001253699
NM_001253701
NM_018695

c.1044_1045del
c.1044_1045del
c.1044_1045del
c.1044_1045del
c.1044_1045del
c.1044_1045del

p.T348fs
p.T348fs
p.T348fs
p.T348fs
p.T348fs
p.T348fs

-

Ruzzo2019 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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