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Results for "MIA2"

Variant Events: 17

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
MIA2       1-0054-004chr14:
39721593-39721593
AGintronicDe novo--Yuen2017 G
MIA2       2-1508-003chr14:
39760249-39760249
TCexonicDe novosynonymous SNVNM_001247988
NM_001247989
NM_001247990
NM_005930
NM_203354
NM_203355
NM_203356
c.T246C
c.T333C
c.T93C
c.T333C
c.T297C
c.T333C
c.T246C
p.S82S
p.S111S
p.S31S
p.S111S
p.S99S
p.S111S
p.S82S
--Yuen2017 G
MIA2       iHART2730chr14:
39716691-39716692
CACexonicMaternalframeshift deletionNM_054024c.914delAp.Q305fs-4.137E-5Ruzzo2019 G
MIA2       1-0458-003chr14:
39811677-39811677
TCintronicDe novo--Yuen2017 G
MIA2       iHART2731chr14:
39716691-39716692
CACexonicMaternalframeshift deletionNM_054024c.914delAp.Q305fs-4.137E-5Ruzzo2019 G
MIA2       1-0559-005chr14:
39749812-39749812
CAintronicDe novo--Yuen2017 G
MIA2       iHART2127chr14:
39717264-39717264
GTexonicMaternalstopgainNM_054024c.G1486Tp.E496X18.51.727E-5Ruzzo2019 G
MIA2       iHART2261chr14:
39716859-39716859
GGAexonicPaternalframeshift insertionNM_054024c.1082dupAp.E361fs-7.486E-5Ruzzo2019 G
MIA2       2-1174-006chr14:
39811257-39811257
TAintronicDe novo--Yuen2017 G
MIA2       2-0223-004chr14:
39806688-39806688
GAintronicDe novo--Yuen2017 G
MIA2       AU072505chr14:
39736641-39736641
AGUTR5De novo--Yuen2017 G
MIA2       2-1174-005Bchr14:
39811614-39811614
GAintronicDe novo--Yuen2017 G
MIA2       2-1174-005Bchr14:
39811257-39811257
TAintronicDe novo--Yuen2017 G
MIA2       DEASD_0282_001chr14:
39777734-39777734
AGexonicDe novononsynonymous SNVNM_001247988
NM_001247989
NM_001247990
NM_005930
NM_203354
NM_203355
NM_203356
c.A1049G
c.A1151G
c.A911G
c.A1136G
c.A1100G
c.A1136G
c.A1049G
p.Q350R
p.Q384R
p.Q304R
p.Q379R
p.Q367R
p.Q379R
p.Q350R
17.81.0E-4DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
MIA2       AU4286302chr14:
39729570-39729570
CTintergenicDe novo--Yuen2017 G
MIA2       iHART2323chr14:
39716607-39716607
CTexonicPaternalstopgainNM_054024c.C829Tp.Q277X13.09-Ruzzo2019 G
MIA2       iHART2322chr14:
39716607-39716607
CTexonicPaternalstopgainNM_054024c.C829Tp.Q277X13.09-Ruzzo2019 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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