Variant Results

or

Results for "MIA3"

Variant Events: 13

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

MIA3

DEASD_0296_001

chr1:
222805584-222805584

A

G

exonic

De novo

nonsynonymous SNV

NM_198551

c.A3247G

p.T1083A

1.62

-

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

MIA3

ASDFI_1144

chr1:
222835428-222835428

G

A

exonic

De novo

nonsynonymous SNV

NM_001300867
NM_198551

c.G1778A
c.G5144A

p.R593Q
p.R1715Q

12.49

8.305E-6

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

MIA3

2-1246-003

chr1:
222784690-222784690

G

T

intergenic

De novo

-

Yuen2017 G

MIA3

SP0009898

chr1:
222824350-222824350

C

T

intronic

De novo

-

Fu2022 E

MIA3

G01_GEA537HI

chr1:
222835635-222835635

A

C

exonic

De novo

synonymous SNV

NM_001300867
NM_198551

c.A1857C
c.A5223C

p.S619S
p.S1741S

10.59

-

Fu2022 E

MIA3

1-0385-003

chr1:
222804392-222804414

CTTTCTTTTCTTTTCTTTTCTTT

CTTTCTTTTCTTTTCTTT

intronic

De novo

-

Yuen2017 G

MIA3

mAGRE5378

chr1:
222838950-222838950

C

T

exonic

Maternal

stopgain

NM_001300867
NM_198551

c.C2347T
c.C5713T

p.Q783X
p.Q1905X

45.0

1.0E-4

Cirnigliaro2023 G

MIA3

mAGRE4051

chr1:
222838936-222838936

C

A

exonic

Paternal

stopgain

NM_001300867
NM_198551

c.C2333A
c.C5699A

p.S778X
p.S1900X

44.0

4.268E-5

Cirnigliaro2023 G

MIA3

SP0215466

chr1:
222806602-222806602

C

G

intronic

De novo

-

Trost2022 G

MIA3

mAGRE5554

chr1:
222838914-222838916

CAG

C

exonic

Maternal

frameshift deletion

NM_001300867
NM_198551

c.2312_2313del
c.5678_5679del

p.Q771fs
p.Q1893fs

-

8.371E-5

Cirnigliaro2023 G

MIA3

1-0410-003

chr1:
222800277-222800277

G

A

intronic

De novo

-

Trost2022 G

MIA3

4-0009-003

chr1:
222832703-222832703

G

GT

intronic

De novo

-

Trost2022 G

MIA3

7-0199-003

chr1:
222823731-222823735

ATTCT

A

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
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