Variant Results

or

Results for "HADHA"

Variant Events: 11

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

HADHA

70381

chr2:
26432717-26432717

C

A

exonic

De novo

nonsynonymous SNV

NM_000182

c.G1017T

p.L339F

19.12

-

Fu2022 E
Trost2022 G

HADHA

AU4033304

chr2:
26458125-26458125

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

HADHA

REACH000428

chr2:
26449114-26449114

C

A

intronic

De novo

-

Trost2022 G

HADHA

Lim2017:70381

chr2:
26432717-26432717

C

A

exonic

De novo

nonsynonymous SNV

NM_000182

c.G1017T

p.L339F

19.12

-

Lim2017 E

HADHA

13596.p1

chr2:
26432717-26432717

C

A

exonic

De novo

nonsynonymous SNV

NM_000182

c.G1017T

p.L339F

19.12

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

HADHA

SP0014861

chr2:
26420537-26420537

G

T

intronic

De novo

-

Fu2022 E

HADHA

1-1008-003

chr2:
26415032-26415032

T

C

intronic

De novo

-

Trost2022 G

HADHA

REACH000258

chr2:
26433605-26433605

C

G

intronic

De novo

-

Trost2022 G

HADHA

SP0009232

chr2:
26457027-26457027

G

A

intronic

De novo

-

Fu2022 E

HADHA

7-0410-003

chr2:
26418895-26418895

A

C

intronic

De novo

-

Trost2022 G

HADHA

AU4006302

chr2:
26450302-26450302

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 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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