Variant Results

or

Results for "EHHADH"

Variant Events: 21

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

EHHADH

mAGRE4743

chr3:
184910085-184910085

G

GT

exonic

Maternal

frameshift insertion

NM_001166415
NM_001966

c.1812dupA
c.2100dupA

p.L605fs
p.L701fs

-

1.0E-4

Cirnigliaro2023 G

EHHADH

mAGRE1480

chr3:
184910085-184910085

G

GT

exonic

Maternal

frameshift insertion

NM_001166415
NM_001966

c.1812dupA
c.2100dupA

p.L605fs
p.L701fs

-

1.0E-4

Cirnigliaro2023 G

EHHADH

mAGRE2480

chr3:
184910037-184910047

CTGCCAAGCTT

C

exonic

Paternal

frameshift deletion

NM_001166415
NM_001966

c.1851_1860del
c.2139_2148del

p.Q617fs
p.Q713fs

-

8.334E-6

Cirnigliaro2023 G

EHHADH

2-1629-003

chr3:
184941762-184941762

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

EHHADH

mAGRE2479

chr3:
184910037-184910047

CTGCCAAGCTT

C

exonic

Paternal

frameshift deletion

NM_001166415
NM_001966

c.1851_1860del
c.2139_2148del

p.Q617fs
p.Q713fs

-

8.334E-6

Cirnigliaro2023 G

EHHADH

09C99843

chr3:
184953086-184953086

G

A

exonic

De novo

nonsynonymous SNV

NM_001166415
NM_001966

c.C55T
c.C343T

p.H19Y
p.H115Y

4.138

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

EHHADH

REACH000586

chr3:
184961169-184961169

G

A

intronic

De novo

-

Trost2022 G

EHHADH

13649.p1

chr3:
184968374-184968374

G

C

intronic

De novo

-

Turner2016 G

EHHADH

7-0081-003

chr3:
184921942-184921942

A

T

intronic

De novo

-

Trost2022 G

EHHADH

MSSNG00216-003

chr3:
184958137-184958137

G

A

intronic

De novo

-

Trost2022 G

EHHADH

mAGRE4018

chr3:
184922518-184922520

CAG

C

exonic

Maternal

frameshift deletion

NM_001166415
NM_001966

c.306_307del
c.594_595del

p.L102fs
p.L198fs

-

5.882E-5

Cirnigliaro2023 G

EHHADH

AU1668302

chr3:
184977201-184977201

C

T

intergenic

De novo

-

Yuen2017 G

EHHADH

13154.p1

chr3:
184910031-184910031

G

A

exonic

Mosaic

nonsynonymous SNV

NM_001166415
NM_001966

c.C1867T
c.C2155T

p.P623S
p.P719S

9.99

-

Krupp2017 E

EHHADH

SP0053071

chr3:
184971643-184971643

G

A

UTR5

De novo

-

Fu2022 E
Trost2022 G

EHHADH

Cukier2014:37037

chr3:
184910078-184910078

G

A

exonic

Unknown

nonsynonymous SNV

NM_001166415
NM_001966

c.C1820T
c.C2108T

p.S607F
p.S703F

18.12

0.0097

Cukier2014 E

EHHADH

iHART1480

chr3:
184910085-184910085

G

GT

exonic

Maternal

frameshift insertion

NM_001166415
NM_001966

c.1812dupA
c.2100dupA

p.L605fs
p.L701fs

-

1.0E-4

Ruzzo2019 G

EHHADH

MSSNG00378-003

chr3:
184910289-184910289

G

A

exonic

De novo

nonsynonymous SNV

NM_001166415
NM_001966

c.C1609T
c.C1897T

p.R537C
p.R633C

17.97

4.942E-5

Trost2022 G
Zhou2022 GE

EHHADH

iHART2479

chr3:
184910037-184910047

CTGCCAAGCTT

C

exonic

Paternal

frameshift deletion

NM_001166415
NM_001966

c.1851_1860del
c.2139_2148del

p.Q617fs
p.Q713fs

-

8.334E-6

Ruzzo2019 G

EHHADH

1-0452-003

chr3:
184961612-184961612

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

EHHADH

1-0494-003A

chr3:
184974673-184974673

A

ATAAC

intergenic

De novo

-

Yuen2017 G

EHHADH

iHART2480

chr3:
184910037-184910047

CTGCCAAGCTT

C

exonic

Paternal

frameshift deletion

NM_001166415
NM_001966

c.1851_1860del
c.2139_2148del

p.Q617fs
p.Q713fs

-

8.334E-6

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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