or
or
Exact

Results for "SP3"

Variant Events: 14

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
SP3     2-0503-004chr2:
174825205-174825205
AGintronicDe novo--Yuen2017 G
SP3     AU3906301chr2:
174848372-174848372
GAintergenicDe novo--Yuen2017 G
SP3     AU4211304chr2:
174896633-174896633
CTintergenicDe novo--Yuen2017 G
SP3     1-0715-003chr2:
174899451-174899451
CTintergenicDe novo--Yuen2017 G
SP3     AU2711303chr2:
174864292-174864292
GAintergenicDe novo--Yuen2017 G
SP3     2-1345-003chr2:
174870207-174870207
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
SP3     150974chr2:
174828583-174828583
AGexonicDe novononsynonymous SNVNM_001172712
NM_003111
c.T176C
c.T185C
p.L59P
p.L62P
20.4-Satterstrom2020 E
SP3     14527.p1chr2:
174820528-174820528
CTexonicDe novononsynonymous SNVNM_001017371
NM_001172712
NM_003111
c.G508A
c.G703A
c.G712A
p.G170R
p.G235R
p.G238R
16.47-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
SP3     1-0043-004chr2:
174871839-174871839
AGintergenicDe novo--Yuen2017 G
SP3     Lim2017:36791chr2:
174820528-174820528
CTexonicDe novononsynonymous SNVNM_001017371
NM_001172712
NM_003111
c.G508A
c.G703A
c.G712A
p.G170R
p.G235R
p.G238R
16.47-Lim2017 E
SP3     NDAR_INVEK534HR7_wes1chr2:
174777809-174777809
CTexonicDe novononsynonymous SNVNM_001017371
NM_001172712
NM_003111
c.G1814A
c.G2009A
c.G2018A
p.R605K
p.R670K
p.R673K
16.93-Lim2017 E
SP3     AU011604chr2:
174837185-174837185
CTintergenicDe novo--Yuen2017 G
SP3     AU002903chr2:
174839847-174839847
AGintergenicDe novo--Yuen2017 G
SP3     1-0257-003chr2:
174793374-174793374
TGintronicDe novo--Yuen2017 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 notesView
More