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Results for "BCORL1"

Variant Events: 9

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
BCORL1     33_15auchrX:
129173230-129173245
AGCGACACCATGAAGCAexonicDe novononframeshift deletionNM_021946
NM_001184772
c.4592_4606del
c.4814_4828del
p.1531_1536del
p.1605_1610del
--Satterstrom2020 E
BCORL1     AU3398301chrX:
129175276-129175283
GAGACAGAGAGAintronicDe novo--Yuen2017 G
BCORL1     12340.p1chrX:
129149138-129149138
GAexonicDe novo, Mosaicnonsynonymous SNVNM_001184772
NM_021946
c.G2390A
c.G2390A
p.C797Y
p.C797Y
15.04-Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
BCORL1     AU4468301chrX:
129177753-129177761
ATATATATTATintronicDe novo--Yuen2017 G
BCORL1     1-0367-003chrX:
129175276-129175283
GAGACAGAGAGAintronicDe novo--Yuen2017 G
BCORL1     F10267-1chrX:
129148372-129148372
GAexonicDe novononsynonymous SNVNM_001184772
NM_021946
c.G1624A
c.G1624A
p.D542N
p.D542N
8.176-Satterstrom2020 E
BCORL1     2-1375-003chrX:
129150017-129150017
GCexonicInheritednonsynonymous SNVNM_001184772
NM_021946
c.G3269C
c.G3269C
p.R1090P
p.R1090P
17.452.0E-4Jiang2013 G
BCORL1     AU4015303chrX:
129196477-129196480
TTCTTTintergenicDe novo--Yuen2017 G
BCORL1     SP0016671chrX:
129149978-129149979
GGTTexonicDe novononframeshift substitutionNM_001184772
NM_021946
c.3230_3231TT
c.3230_3231TT
N/A
N/A
--Feliciano2019 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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