Variant Results

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Results for "BTBD10"

Variant Events: 13

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

BTBD10

1-0488-003

chr11:
13417161-13417161

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

BTBD10

2-0295-004

chr11:
13481172-13481172

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

BTBD10

1637001

chr11:
13410568-13410568

C

T

exonic

De novo

nonsynonymous SNV

NM_001297741
NM_001297742
NM_032320

c.G1094A
c.G1262A
c.G1238A

p.R365Q
p.R421Q
p.R413Q

28.3

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

BTBD10

AU4228301

chr11:
13470678-13470678

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

BTBD10

AU4149301

chr11:
13473079-13473079

A

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

BTBD10

2-0070-004

chr11:
13427361-13427361

T

G

exonic

De novo

nonsynonymous SNV

NM_001297741
NM_001297742
NM_032320

c.A707C
c.A875C
c.A851C

p.Q236P
p.Q292P
p.Q284P

24.4

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

BTBD10

AU2463301

chr11:
13458294-13458294

G

A

intronic

De novo

-

-

Trost2022 G

BTBD10

MT_12.3

chr11:
13463705-13463705

C

A

intronic

De novo

-

-

Trost2022 G

BTBD10

MSSNG00367-003

chr11:
13443894-13443894

T

C

intronic

De novo

-

-

Trost2022 G

BTBD10

1-0649-003

chr11:
13451161-13451161

G

A

intronic

De novo

-

-

Trost2022 G

BTBD10

LM-C004-C

chr11:
13435114-13435114

G

A

exonic

De novo

synonymous SNV

NM_001297741
NM_001297742
NM_032320

c.C627T
c.C795T
c.C771T

p.I209I
p.I265I
p.I257I

-

-

Fu2022 E

BTBD10

5-0009-003

chr11:
13434722-13434722

T

A

intronic

De novo

-

-

Trost2022 G

BTBD10

SSC11078

chr11:
13424733-13424733

T

A

exonic

De novo

nonsynonymous SNV

NM_001297741
NM_001297742
NM_032320

c.A955T
c.A1123T
c.A1099T

p.I319F
p.I375F
p.I367F

19.96

-

Fu2022 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 notes	View
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