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Results for "CR1"

Variant Events: 16

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
CR1     1-0324-003chr1:
207793763-207793763
AGintronicDe novo--Yuen2017 G
CR1     AU027506chr1:
207761888-207761888
TAintronicDe novo--Yuen2017 G
CR1     1706001chr1:
207748911-207748911
GAintronicDe novo--Satterstrom2020 E
CR1     SP0029048chr1:
207680060-207680060
TCexonicDe novosynonymous SNVNM_000573
NM_000651
c.T303C
c.T303C
p.R101R
p.R101R
0.0318.291E-6Feliciano2019 E
CR1     11588.p1chr1:
207741123-207741123
TCintronicDe novo--Satterstrom2020 E
CR1     1-0972-003chr1:
207695909-207695909
TGintronicDe novo--Yuen2017 G
CR1     AU2427303chr1:
207688092-207688093
TCTintronicDe novo--Yuen2017 G
CR1     iHART2245chr1:
207793411-207793411
GAsplicingMaternalsplicing23.93.0E-4Ruzzo2019 G
CR1     iHART2244chr1:
207793411-207793411
GAsplicingMaternalsplicing23.93.0E-4Ruzzo2019 G
CR1     13826.p1chr1:
207793410-207793410
CTexonicDe novononsynonymous SNVNM_000573
NM_000651
c.C5902T
c.C7252T
p.R1968C
p.R2418C
14.851.0E-4Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
CR1     7-0161-003chr1:
207786900-207786900
CTintronicDe novo--Yuen2017 G
CR1     AU4465303chr1:
207782342-207782342
GAintronicDe novo--Yuen2017 G
CR1     2-1264-003chr1:
207761516-207761539
TTTTGTTTGTTTGTTTGTTTGTTTTTTTGTTTGTTTGTTTGTTTintronicDe novo--Yuen2017 G
CR1     AU4164301chr1:
207784723-207784723
GAintronicDe novo--Yuen2017 G
CR1     AU060703chr1:
207793308-207793308
GTexonicDe novononsynonymous SNVNM_000573
NM_000651
c.G5800T
c.G7150T
p.V1934L
p.V2384L
11.3-Yuen2017 G
CR1     AU006804chr1:
207782596-207782596
ATintronicDe 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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