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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     13596.p1chr2:
26432717-26432717
CAexonicDe novononsynonymous SNVNM_000182c.G1017Tp.L339F19.12-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
HADHA     SP0014861chr2:
26420537-26420537
GTintronicDe novo--Fu2022 E
HADHA     70381chr2:
26432717-26432717
CAexonicDe novononsynonymous SNVNM_000182c.G1017Tp.L339F19.12-Fu2022 E
Trost2022 G
HADHA     AU4033304chr2:
26458125-26458125
CTintronicDe novo--Trost2022 G
Yuen2017 G
HADHA     REACH000428chr2:
26449114-26449114
CAintronicDe novo--Trost2022 G
HADHA     Lim2017:70381chr2:
26432717-26432717
CAexonicDe novononsynonymous SNVNM_000182c.G1017Tp.L339F19.12-Lim2017 E
HADHA     1-1008-003chr2:
26415032-26415032
TCintronicDe novo--Trost2022 G
HADHA     REACH000258chr2:
26433605-26433605
CGintronicDe novo--Trost2022 G
HADHA     SP0009232chr2:
26457027-26457027
GAintronicDe novo--Fu2022 E
HADHA     7-0410-003chr2:
26418895-26418895
ACintronicDe novo--Trost2022 G
HADHA     AU4006302chr2:
26450302-26450302
CGintronicDe novo--Trost2022 G
Yuen2017 G
Source Variant Information

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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 notesView
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