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Results for "MDGA2"

Variant Events: 44

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
MDGA2     5-0025-003chr14:
47393952-47393952
GCintronicDe novo--Yuen2017 G
MDGA2     1-0498-003chr14:
47577656-47577656
CTintronicDe novo--Yuen2017 G
MDGA2     2-0309-004chr14:
47784321-47784333
TAGTTTATTTCTATintronicDe novo--Yuen2017 G
MDGA2     2-1502-003chr14:
47360600-47360600
TAintronicDe novo--Yuen2017 G
MDGA2     2-1252-003chr14:
47436232-47436233
CACintronicDe novo--Yuen2017 G
MDGA2     7-0095-003chr14:
47847435-47847435
GAintronicDe novo--Yuen2017 G
MDGA2     1-0551-003chr14:
47694213-47694215
CTTCintronicDe novo--Yuen2017 G
MDGA2     2-0296-004chr14:
47627544-47627544
CTintronicDe novo--Yuen2017 G
MDGA2     AU0452303chr14:
47889135-47889135
TCintronicDe novo--Yuen2017 G
MDGA2     7-0103-003chr14:
47481785-47481785
TAintronicDe novo--Yuen2017 G
MDGA2     2-0256-004chr14:
47592315-47592315
GGTintronicDe novo--Yuen2017 G
MDGA2     7-0080-003chr14:
47342255-47342256
TATintronicDe novo--Yuen2017 G
MDGA2     1-0357-003chr14:
47570251-47570251
AGintronicDe novo--Yuen2017 G
MDGA2     13290.p1chr14:
47770803-47770803
TCintronicDe novo--Satterstrom2020 E
MDGA2     2-0003-004chr14:
47662781-47662781
TCintronicDe novo--Yuen2017 G
MDGA2     3-0185-000chr14:
47943954-47943954
AGintronicDe novo--Yuen2017 G
MDGA2     1-0197-003chr14:
47905738-47905738
CGintronicDe novo--Yuen2017 G
MDGA2     2-1619-004chr14:
47971925-47971925
TCintronicDe novo--Yuen2017 G
MDGA2     09C81083chr14:
47311217-47311217
CTexonicDe novononsynonymous SNVNM_001113498
NM_182830
c.G2788A
c.G2101A
p.V930I
p.V701I
9.3853.0E-4DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
MDGA2     13515.p1chr14:
47526626-47526626
TCintronicDe novo--Turner2016 G
MDGA2     2-1261-004chr14:
47871931-47871931
CGintronicDe novo--Yuen2017 G
MDGA2     2-0309-005chr14:
48029089-48029089
GTintronicDe novo--Yuen2017 G
MDGA2     1-0263-003chr14:
48179908-48179911
TTCATintergenicDe novo--Yuen2016 G
MDGA2     1-0375-003chr14:
47690431-47690431
GAintronicDe novo--Yuen2017 G
MDGA2     AU4468301chr14:
47362635-47362646
CACAGAACAGAACACAGAAintronicDe novo--Yuen2017 G
MDGA2     AU3725302chr14:
47683730-47683730
TGintronicDe novo--Yuen2017 G
MDGA2     iHART1905chr14:
48143825-48143829
GGGTAGUTR5Paternal--Ruzzo2019 G
MDGA2     iHART1901chr14:
48143825-48143829
GGGTAGUTR5Paternal--Ruzzo2019 G
MDGA2     2-1480-003chr14:
47465310-47465310
GAintronicDe novo--Yuen2016 G
MDGA2     7-0249-004chr14:
47821620-47821620
CTintronicDe novo--Yuen2017 G
MDGA2     iHART2726chr14:
48143988-48143988
CCCACACACTCATGCACAAACACACTCAUTR5Maternal--Ruzzo2019 G
MDGA2     1-0556-003chr14:
47445378-47445378
AGintronicDe novo--Yuen2017 G
MDGA2     AU4356302chr14:
47962319-47962319
CTintronicDe novo--Yuen2017 G
MDGA2     A26chr14:
48042611-48042611
TCintronicDe novo--Wu2018 G
MDGA2     AU3809302chr14:
47667086-47667086
TCintronicDe novo--Yuen2017 G
MDGA2     AU4033304chr14:
48073854-48073863
ACTCTCTCTCACTCTCTCintronicDe novo--Yuen2017 G
MDGA2     1-0668-003chr14:
48051274-48051274
CAintronicDe novo--Yuen2017 G
MDGA2     5-0084-003chr14:
47481585-47481585
TGintronicDe novo--Yuen2017 G
MDGA2     AU0146302chr14:
47763415-47763415
CTintronicDe novo--Yuen2017 G
MDGA2     2-1290-003chr14:
48052535-48052535
GTintronicDe novo--Yuen2017 G
MDGA2     AU3051303chr14:
47595143-47595145
CATCintronicDe novo--Yuen2017 G
MDGA2     1-0104-003chr14:
47894884-47894884
ATintronicDe novo--Yuen2017 G
MDGA2     AU3760301chr14:
47427465-47427465
GAintronicDe novo--Yuen2017 G
MDGA2     1-0104-003chr14:
47324053-47324053
CAintronicDe novo--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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