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Results for "SRGAP3"

Variant Events: 31

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
SRGAP3     AU3716302chr3:
9356992-9356992
AGintergenicDe novo--Yuen2017 G
SRGAP3     2-1366-004chr3:
9101547-9101547
CAintronicDe novo--Yuen2017 G
SRGAP3     2-1437-003chr3:
9189909-9189909
CTintronicDe novo--Yuen2017 G
SRGAP3     PN400455chr3:
9032348-9032348
GAexonicUnknownnonsynonymous SNVNM_001033117
NM_014850
c.C2662T
c.C2734T
p.R888W
p.R912W
20.95.0E-4Leblond2019 E
SRGAP3     2-0223-004chr3:
9044543-9044543
TCintronicDe novo--Yuen2017 G
SRGAP3     7-0032-003chr3:
9136332-9136332
CTintronicDe novo--Yuen2017 G
SRGAP3     7-0179-003chr3:
9368636-9368636
TAintergenicDe novo--Yuen2017 G
SRGAP3     2-1322-004chr3:
9193026-9193026
CTintronicDe novo--Yuen2017 G
SRGAP3     AU4186302chr3:
9170177-9170177
GAintronicDe novo--Yuen2017 G
SRGAP3     AU3698301chr3:
9124655-9124655
CTintronicDe novo--Yuen2017 G
SRGAP3     AU4191302chr3:
9246750-9246750
GAintronicDe novo--Yuen2017 G
SRGAP3     AU3636302chr3:
9317338-9317338
CGintergenicDe novo--Yuen2017 G
SRGAP3     1-0744-003chr3:
9402522-9402522
TGintergenicDe novo--Yuen2017 G
SRGAP3     PN400359chr3:
9032348-9032348
GAexonicUnknownnonsynonymous SNVNM_001033117
NM_014850
c.C2662T
c.C2734T
p.R888W
p.R912W
20.95.0E-4Leblond2019 E
SRGAP3     1-0248-003chr3:
9172552-9172552
TCintronicDe novo--Yuen2017 G
SRGAP3     1-0197-003chr3:
9360243-9360245
CCTCintergenicDe novo--Yuen2017 G
SRGAP3     1-0006-004chr3:
9341870-9341870
TTCACintergenicDe novo--Yuen2017 G
SRGAP3     2-1278-003chr3:
9182219-9182219
AGintronicDe novo--Yuen2016 G
Yuen2017 G
SRGAP3     2-0309-005chr3:
9031992-9031992
CTintronicDe novo--Yuen2017 G
SRGAP3     14681.p1chr3:
9036106-9036106
CTexonicDe novononsynonymous SNVNM_001033117
NM_014850
c.G2257A
c.G2329A
p.A753T
p.A777T
35.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Turner2017 G
Wilfert2021 G
SRGAP3     12657.p1chr3:
9089078-9089078
CTexonicDe novononsynonymous SNVNM_001033117
NM_014850
c.G1405A
c.G1405A
p.E469K
p.E469K
27.38.348E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
SRGAP3     M17511chr3:
9032375-9032375
GAexonicUnknownnonsynonymous SNVNM_001033117
NM_014850
c.C2635T
c.C2707T
p.R879W
p.R903W
22.01.858E-5Stessman2017 T
SRGAP3     211-5567-3chr3:
9036154-9036154
GAexonicUnknownnonsynonymous SNVNM_001033117
NM_014850
c.C2209T
c.C2281T
p.R737C
p.R761C
22.7-Stessman2017 T
SRGAP3     1-0483-003chr3:
9399715-9399715
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
SRGAP3     SP0001367chr3:
9055457-9055457
AGexonicDe novononsynonymous SNVNM_001033117
NM_014850
c.T1811C
c.T1883C
p.I604T
p.I628T
17.128.237E-6Feliciano2019 E
SRGAP3     219-2344-1chr3:
9036163-9036163
GAexonicUnknownnonsynonymous SNVNM_001033117
NM_014850
c.C2200T
c.C2272T
p.R734W
p.R758W
22.98.284E-6Stessman2017 T
SRGAP3     1-0514-003chr3:
9375434-9375434
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
SRGAP3     1-0597-003chr3:
9298393-9298393
TCintergenicDe novo--Yuen2017 G
SRGAP3     2-1702-004chr3:
9330179-9330179
CCTAAintergenicDe novo--Yuen2017 G
SRGAP3     PN400349chr3:
9032348-9032348
GAexonicUnknownnonsynonymous SNVNM_001033117
NM_014850
c.C2662T
c.C2734T
p.R888W
p.R912W
20.95.0E-4Leblond2019 E
SRGAP3     1-0373-003chr3:
9092037-9092037
CTintronicDe 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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