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Results for "SPECC1"

Variant Events: 15

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
SPECC1     AU4483301chr17:
20190188-20190188
GAintronicDe novo--Yuen2017 G
SPECC1     1-0299-004chr17:
20111084-20111084
CAintronicDe novo--Yuen2017 G
SPECC1     CC963.202chr17:
20108981-20108981
GAexonicDe novononsynonymous SNVNM_001033554
NM_001033555
NM_001243438
NM_001033553
NM_001243439
NM_152904
c.G1376A
c.G1376A
c.G1376A
c.G1619A
c.G1619A
c.G1619A
p.C459Y
p.C459Y
p.C459Y
p.C540Y
p.C540Y
p.C540Y
0.001-Lim2017 E
Satterstrom2020 E
SPECC1     1-0885-003chr17:
20169568-20169568
CTintronicDe novo--Yuen2017 G
SPECC1     1-0414-005chr17:
20008259-20008259
GAintronicDe novo--Yuen2017 G
SPECC1     A25chr17:
19937486-19937486
CTintronicDe novo--Wu2018 G
SPECC1     A16chr17:
20069897-20069897
ACintronicDe novo--Wu2018 G
SPECC1     AU005213chr17:
20120981-20120981
CTintronicDe novo--Yuen2017 G
SPECC1     AU4452302chr17:
20103447-20103447
TCintronicDe novo--Yuen2017 G
SPECC1     1-0590-003chr17:
20195407-20195407
GAintronicDe novo--Yuen2017 G
SPECC1     AU060004chr17:
19945228-19945228
GTintronicDe novo--Yuen2017 G
SPECC1     AU3794302chr17:
20180630-20180630
AGintronicDe novo--Yuen2017 G
SPECC1     AU4246304chr17:
20001271-20001271
CTintronicDe novo--Yuen2017 G
SPECC1     AC02-1224-01chr17:
20013702-20013702
AGintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
SPECC1     AU017304chr17:
20121501-20121501
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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