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Results for "LRRC27"

Variant Events: 11

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
LRRC27     AU4054301chr10:
134189204-134189204
TCUTR3De novo--Yuen2017 G
LRRC27     200675411@1082034626chr10:
134158126-134158126
CTexonicDe novosynonymous SNVNM_001309474
NM_001143757
NM_001143758
NM_001143759
NM_030626
c.C144T
c.C525T
c.C525T
c.C525T
c.C525T
p.H48H
p.H175H
p.H175H
p.H175H
p.H175H
15.72-Satterstrom2020 E
LRRC27     iHART1768chr10:
134178977-134178977
CTexonicPaternalstopgainNM_001309474
NM_001143757
NM_030626
c.C958T
c.C1339T
c.C1339T
p.Q320X
p.Q447X
p.Q447X
37.04.16E-5Ruzzo2019 G
LRRC27     iHART1767chr10:
134178977-134178977
CTexonicPaternalstopgainNM_001309474
NM_001143757
NM_030626
c.C958T
c.C1339T
c.C1339T
p.Q320X
p.Q447X
p.Q447X
37.04.16E-5Ruzzo2019 G
LRRC27     5-0137-003chr10:
134178055-134178055
AGintronicDe novo--Yuen2017 G
LRRC27     Chen2017:27chr10:
134158126-134158126
CTexonicDe novosynonymous SNVNM_001309474
NM_001143757
NM_001143758
NM_001143759
NM_030626
c.C144T
c.C525T
c.C525T
c.C525T
c.C525T
p.H48H
p.H175H
p.H175H
p.H175H
p.H175H
15.72-Chen2017 E
LRRC27     AU031404chr10:
134171832-134171838
GAGCAGCGAGCintronicDe novo--Yuen2017 G
LRRC27     AU4465303chr10:
134202666-134202666
TCintergenicDe novo--Yuen2017 G
LRRC27     2-1374-003chr10:
134206079-134206079
GAintergenicDe novo--Yuen2017 G
LRRC27     2-1480-003chr10:
134177897-134177897
CAintronicDe novo--Yuen2017 G
LRRC27     AU3794301chr10:
134182796-134182796
CGintronicDe 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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