Variant Results

or

Results for "EPB41"

Variant Events: 41

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

EPB41

1-0224-004

chr1:
29427433-29427435

CCT

TCC

intronic

De novo

-

Trost2022 G

EPB41

1-0224-004

chr1:
29427424-29427430

CACCAAG

GAGCGAA

intronic

De novo

-

Trost2022 G

EPB41

5-0040-003

chr1:
29427424-29427430

CACCAAG

GAGCGAA

intronic

De novo

-

Trost2022 G

EPB41

5-0040-003

chr1:
29427433-29427435

CCT

TCC

intronic

De novo

-

Trost2022 G

EPB41

1-0043-004

chr1:
29427433-29427435

CCT

TCC

intronic

De novo

-

Trost2022 G

EPB41

2-1562-003

chr1:
29361451-29361451

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

EPB41

1-0357-003

chr1:
29216090-29216090

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

EPB41

2-1357-003

chr1:
29313332-29313332

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

EPB41

2-1093-009

chr1:
29355047-29355047

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

EPB41

AU4168306

chr1:
29307709-29307709

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

EPB41

AU4168306

chr1:
29308453-29308453

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

EPB41

1-0269-003

chr1:
29426969-29426969

T

C

intronic

De novo

-

Yuen2017 G

EPB41

2-1085-004

chr1:
29257627-29257627

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

EPB41

74-0707

chr1:
29385338-29385338

A

C

exonic

Inherited

nonsynonymous SNV

NM_001166005

c.A1918C

p.T640P

9.666

-

Patowary2019 E

EPB41

SP0065237

chr1:
29424403-29424403

A

G

exonic

nonsynonymous SNV

NM_203343
NM_001166007
NM_004437
NM_001166005
NM_203342

c.A2002G
c.A1480G
c.A1543G
c.A2269G
c.A1600G

p.I668V
p.I494V
p.I515V
p.I757V
p.I534V

8.641

2.0E-4

Zhou2022 GE

EPB41

2-1370-003

chr1:
29243750-29243761

ATCTCTCTCTCT

ATCTCTCTCT

intronic

De novo

-

Yuen2017 G

EPB41

5-1012-003

chr1:
29214260-29214260

C

A

intronic

De novo

-

Trost2022 G

EPB41

1-0300-004

chr1:
29426969-29426969

T

C

intronic

De novo

-

Yuen2017 G

EPB41

DEASD_0198_001

chr1:
29379632-29379632

G

A

exonic

De novo

synonymous SNV

NM_203343
NM_001166005
NM_001166006
NM_001166007
NM_004437
NM_203342

c.G1548A
c.G1653A
c.G1653A
c.G1026A
c.G1026A
c.G1026A

p.S516S
p.S551S
p.S551S
p.S342S
p.S342S
p.S342S

-

8.328E-6

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

EPB41

2-1335-003

chr1:
29383620-29383620

G

GGCT

intronic

De novo

-

Trost2022 G
Yuen2017 G

EPB41

1-0945-003

chr1:
29245473-29245473

G

A

intronic

De novo

-

Trost2022 G

EPB41

3-0504-000

chr1:
29226458-29226458

T

C

intronic

De novo

-

Trost2022 G

EPB41

mAGRE4936

chr1:
29365824-29365824

C

T

exonic

Paternal

stopgain

NM_203343
NM_001166005
NM_001166006
NM_001166007
NM_004437
NM_203342

c.C1417T
c.C1522T
c.C1522T
c.C895T
c.C895T
c.C895T

p.R473X
p.R508X
p.R508X
p.R299X
p.R299X
p.R299X

38.0

-

Cirnigliaro2023 G

EPB41

2-0242-005

chr1:
29426699-29426699

T

TA

intronic

De novo

-

Trost2022 G
Yuen2017 G

EPB41

7-0454-003

chr1:
29356204-29356204

G

A

intronic

De novo

-

Trost2022 G

EPB41

1-0010-003

chr1:
29304455-29304464

CATTTTATAT

GAAACTGTCC

intronic

De novo

-

Trost2022 G

EPB41

REACH000249

chr1:
29365105-29365105

T

C

intronic

De novo

-

Trost2022 G

EPB41

1034

chr1:
29363959-29363959

C

T

intronic

De novo

-

Trost2022 G

EPB41

1-0625-003

chr1:
29419556-29419556

T

TTTA

intronic

De novo

-

Trost2022 G
Yuen2017 G

EPB41

MT_35.3

chr1:
29284499-29284500

TA

T

intronic

De novo

-

Trost2022 G

EPB41

1-0714-003

chr1:
29263914-29263914

A

T

intronic

De novo

-

Trost2022 G

EPB41

7-0233-004

chr1:
29304455-29304464

CATTTTATAT

GAAACTGTCC

intronic

De novo

-

Trost2022 G

EPB41

5-0015-004

chr1:
29304455-29304464

CATTTTATAT

GAAACTGTCC

intronic

De novo

-

Trost2022 G

EPB41

1-0224-004

chr1:
29427420-29427420

A

G

intronic

De novo

-

Trost2022 G

EPB41

5-0040-003

chr1:
29427420-29427420

A

G

intronic

De novo

-

Trost2022 G

EPB41

1-0534-004

chr1:
29427424-29427430

CACCAAG

GAGCGAA

intronic

De novo

-

Trost2022 G

EPB41

1-0043-004

chr1:
29427424-29427430

CACCAAG

GAGCGAA

intronic

De novo

-

Trost2022 G

EPB41

P6Q4Z_01

chr1:
29383922-29383922

C

A

intronic

De novo

-

Trost2022 G

EPB41

MSSNG00395-003

chr1:
29366483-29366483

A

G

intronic

De novo

-

Trost2022 G

EPB41

1-0534-004

chr1:
29427420-29427420

A

G

intronic

De novo

-

Trost2022 G

EPB41

1-0043-004

chr1:
29427420-29427420

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
	More