Variant Results

or

Results for "BSDC1"

Variant Events: 19

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

MT_25.3

chr1:
32835409-32835410

TC

T

intronic

De novo

-

Trost2022 G

BSDC1

2-1617-003

chr1:
32834318-32834318

C

T

intronic

De novo

-

Trost2022 G

BSDC1

3-0207-000

chr1:
32840711-32840711

C

T

intronic

De novo

-

Trost2022 G

BSDC1

5-5023-003

chr1:
32835669-32835669

C

T

intronic

De novo

-

Trost2022 G

BSDC1

2-1335-004

chr1:
32852481-32852483

CCA

C

exonic

De novo

frameshift deletion

NM_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
Zhou2022 GE

BSDC1

SP0050470

chr1:
32834054-32834054

G

A

exonic

De novo

synonymous SNV

NM_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-6

Trost2022 G

BSDC1

2-1327-004

chr1:
32912796-32912796

C

T

intergenic

De novo

-

Yuen2017 G

BSDC1

PN400363

chr1:
32834055-32834055

G

A

exonic

Unknown

nonsynonymous SNV

NM_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

21.8

6.0E-4

Leblond2019 E

BSDC1

1-0951-003

chr1:
32854656-32854656

T

C

intronic

De novo

-

Trost2022 G

BSDC1

MSSNG00001-003

chr1:
32845727-32845727

G

GT

intronic

De novo

-

Trost2022 G

BSDC1

1-0045-004

chr1:
32923896-32923896

T

TTA

intergenic

De novo

-

Yuen2017 G

BSDC1

AU3634301

chr1:
32857750-32857750

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

BSDC1

G01-GEA-89-HI

chr1:
32852470-32852470

C

T

exonic

De novo

synonymous SNV

NM_001143888
NM_001143889
NM_001300958
NM_018045

c.G99A
c.G99A
c.G99A
c.G99A

p.K33K
p.K33K
p.K33K
p.K33K

-

Fu2022 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

BSDC1

SP0124791

chr1:
32833762-32833762

C

T

UTR3

De novo

-

Fu2022 E
Trost2022 G

BSDC1

7-0059-003

chr1:
32847549-32847549

C

T

intronic

De novo

-

Yuen2017 G

BSDC1

3-0018-000

chr1:
32834054-32834054

G

A

exonic

De novo

synonymous SNV

NM_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-6

Trost2022 G
Yuen2017 G
Zhou2022 GE

BSDC1

1-0299-003

chr1:
32929188-32929188

G

A

intergenic

De novo

-

Yuen2017 G

BSDC1

PN400431

chr1:
32834055-32834055

G

A

exonic

Unknown

nonsynonymous SNV

NM_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

21.8

6.0E-4

Leblond2019 E

BSDC1

10C105646

chr1:
32852481-32852483

CCA

C

exonic

De novo

frameshift deletion

NM_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

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

Source Variant Information

, -

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 notes	View
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