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Results for "SP110"

Variant Events: 7

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
SP110     14037.p1chr2:
231035373-231035373
CTexonicDe novononsynonymous SNVNM_004509
NM_080424
c.G1920A
c.G1992A
p.M640I
p.M664I
9.184-Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
SP110     iHART2253chr2:
231037606-231037606
GAexonicMaternalstopgainNM_004509
NM_080424
c.C1660T
c.C1660T
p.R554X
p.R554X
22.24.945E-5Ruzzo2019 G
SP110     08C76741chr2:
231033967-231033967
ACintronicDe novo--Satterstrom2020 E
SP110     SSC10053chr2:
231035373-231035373
CTexonicDe novononsynonymous SNVNM_004509
NM_080424
c.G1920A
c.G1992A
p.M640I
p.M664I
9.184-Lim2017 E
SP110     iHART2370chr2:
231042973-231042973
TGsplicingMaternalsplicing5.352-Ruzzo2019 G
SP110     iHART2373chr2:
231042973-231042973
TGsplicingMaternalsplicing5.352-Ruzzo2019 G
SP110     NDAR_INVFT531WG7_wes1chr2:
231074661-231074661
GAexonicDe novononsynonymous SNVNM_004509
NM_004510
NM_080424
NM_001185015
c.C814T
c.C814T
c.C814T
c.C832T
p.P272S
p.P272S
p.P272S
p.P278S
1.903-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
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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