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Results for "BSDC1"

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
BSDC1     1-0045-004chr1:
32923896-32923896
TTTAintergenicDe novo--Yuen2017 G
BSDC1     AU3634301chr1:
32857750-32857750
TAintronicDe novo--Yuen2017 G
BSDC1     G01-GEA-89-HIchr1:
32852470-32852470
CTexonicDe novosynonymous SNVNM_001143888
NM_001143889
NM_001300958
NM_018045
c.G99A
c.G99A
c.G99A
c.G99A
p.K33K
p.K33K
p.K33K
p.K33K
--Lim2017 E
Satterstrom2020 E
BSDC1     2-1335-004chr1:
32852481-32852483
CCACexonicDe novoframeshift deletionNM_001143888
NM_001143889
NM_001300958
NM_018045
c.86_87del
c.86_87del
c.86_87del
c.86_87del
p.L29fs
p.L29fs
p.L29fs
p.L29fs
--Yuen2015 G
Yuen2017 G
BSDC1     7-0059-003chr1:
32847549-32847549
CTintronicDe novo--Yuen2017 G
BSDC1     3-0018-000chr1:
32834054-32834054
GAexonicDe novosynonymous SNVNM_001143890
NM_001143889
NM_001143888
NM_001300958
NM_018045
c.C969T
c.C1086T
c.C1305T
c.C1305T
c.C1254T
p.S323S
p.S362S
p.S435S
p.S435S
p.S418S
-8.241E-6Yuen2017 G
BSDC1     2-1327-004chr1:
32912796-32912796
CTintergenicDe novo--Yuen2017 G
BSDC1     1-0299-003chr1:
32929188-32929188
GAintergenicDe novo--Yuen2017 G
BSDC1     PN400363chr1:
32834055-32834055
GAexonicUnknownnonsynonymous SNVNM_001143890
NM_001143889
NM_001143888
NM_001300958
NM_018045
c.C968T
c.C1085T
c.C1304T
c.C1304T
c.C1253T
p.S323F
p.S362F
p.S435F
p.S435F
p.S418F
21.86.0E-4Leblond2019 E
BSDC1     PN400431chr1:
32834055-32834055
GAexonicUnknownnonsynonymous SNVNM_001143890
NM_001143889
NM_001143888
NM_001300958
NM_018045
c.C968T
c.C1085T
c.C1304T
c.C1304T
c.C1253T
p.S323F
p.S362F
p.S435F
p.S435F
p.S418F
21.86.0E-4Leblond2019 E
BSDC1     10C105646chr1:
32852481-32852483
CCACexonicDe novoframeshift deletionNM_001143888
NM_001143889
NM_001300958
NM_018045
c.86_87del
c.86_87del
c.86_87del
c.86_87del
p.L29fs
p.L29fs
p.L29fs
p.L29fs
--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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