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Results for "SV2B"

Variant Events: 18

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
SV2B     AU1698302chr15:
91855568-91855568
GAintergenicDe novo--Yuen2017 G
SV2B     2-1222-003chr15:
91732154-91732154
TGintronicDe novo--Yuen2016 G
Yuen2017 G
SV2B     1-0295-003chr15:
91917134-91917134
GAintergenicDe novo--Yuen2017 G
SV2B     AU2137304chr15:
91959649-91959649
ATintergenicDe novo--Yuen2017 G
SV2B     11356.p1chr15:
91825013-91825013
TAexonicDe novononsynonymous SNVNM_001167580
NM_014848
c.T976A
c.T1429A
p.C326S
p.C477S
27.3-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
SV2B     MT_76chr15:
91832784-91832784
TGexonicMaternalnonsynonymous SNVNM_001167580
NM_014848
c.T1289G
c.T1742G
p.F430C
p.F581C
25.54.942E-5Toma2013 E
SV2B     1-0274-004chr15:
91822464-91822464
ACintronicDe novo--Yuen2017 G
SV2B     1-0120-003chr15:
91730384-91730384
ATintronicDe novo--Yuen2017 G
SV2B     1-0274-003chr15:
91822464-91822464
ACintronicDe novo--Yuen2017 G
SV2B     AU3997302chr15:
91996862-91996862
TCintergenicDe novo--Yuen2017 G
SV2B     AU3794302chr15:
91838204-91838204
GAUTR3De novo--Yuen2017 G
SV2B     AU4306302chr15:
91930028-91930028
TAintergenicDe novo--Yuen2017 G
SV2B     2-1426-003chr15:
91664444-91664444
CGintronicDe novo--Yuen2017 G
SV2B     5-0077-003chr15:
91730979-91730979
CAintronicDe novo--Yuen2017 G
SV2B     AU2215302chr15:
91831453-91831453
GAintronicDe novo--Yuen2017 G
SV2B     1-0384-003chr15:
91918402-91918402
GAintergenicDe novo--Yuen2017 G
SV2B     2-0057-004chr15:
91671162-91671162
TAintronicDe novo--Yuen2017 G
SV2B     5-0077-004chr15:
91730979-91730979
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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