Variant Results

or

or

Results for "BOD1L1"

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

BOD1L1

09C90239

chr4:
13605662-13605662

T

C

exonic

De novo

synonymous SNV

NM_148894

c.A2862G

p.K954K

-

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

BOD1L1

mAGRE1309

chr4:
13571640-13571640

G

A

exonic

Paternal

stopgain

NM_148894

c.C9151T

p.R3051X

18.93

Cirnigliaro2023 G

BOD1L1

PN400506

chr4:
13574351-13574353

CTT

C

intronic

Unknown

-

Leblond2019 E

BOD1L1

mAGRE1307

chr4:
13571640-13571640

G

A

exonic

Paternal

stopgain

NM_148894

c.C9151T

p.R3051X

18.93

Cirnigliaro2023 G

BOD1L1

PN400321

chr4:
13574351-13574353

CTT

C

intronic

Unknown

-

Leblond2019 E

BOD1L1

PN400305

chr4:
13574351-13574353

CTT

C

intronic

Unknown

-

Leblond2019 E

BOD1L1

11959.p1

chr4:
13603626-13603626

A

C

exonic

De novo

nonsynonymous SNV

NM_148894

c.T4898G

p.V1633G

2.34

Satterstrom2020 E

BOD1L1

PN400495

chr4:
13574351-13574353

CTT

C

intronic

Unknown

-

Leblond2019 E

BOD1L1

14433.p1

chr4:
13584354-13584354

T

C

exonic

De novo

nonsynonymous SNV

NM_148894

c.A8440G

p.N2814D

10.22

-

Ji2016 E
Krumm2015 E
Zhou2022 GE

BOD1L1

2-1437-003

chr4:
13587501-13587501

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

BOD1L1

iHART1307

chr4:
13571640-13571640

G

A

exonic

Paternal

stopgain

NM_148894

c.C9151T

p.R3051X

18.93

Ruzzo2019 G

BOD1L1

SP0051713

chr4:
13600582-13600582

C

T

exonic

nonsynonymous SNV

NM_148894

c.G7942A

p.V2648M

9.809

-

Zhou2022 GE

BOD1L1

iHART1309

chr4:
13571640-13571640

G

A

exonic

Paternal

stopgain

NM_148894

c.C9151T

p.R3051X

18.93

Ruzzo2019 G

BOD1L1

SSC11758

chr4:
13584354-13584354

T

C

exonic

De novo

nonsynonymous SNV

NM_148894

c.A8440G

p.N2814D

10.22

-

Fu2022 E
Lim2017 E

BOD1L1

MSSNG00389-003

chr4:
13574678-13574678

T

A

intronic

De novo

-

-

Trost2022 G

BOD1L1

2-0296-003

chr4:
13602459-13602459

G

A

exonic

De novo

nonsynonymous SNV

NM_148894

c.C6065T

p.A2022V

11.81

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

BOD1L1

SP0051712

chr4:
13600582-13600582

C

T

exonic

De novo

nonsynonymous SNV

NM_148894

c.G7942A

p.V2648M

9.809

-

Fu2022 E
Trost2022 G
Zhou2022 GE

BOD1L1

5901

chr4:
13603626-13603626

A

C

exonic

De novo

nonsynonymous SNV

NM_148894

c.T4898G

p.V1633G

2.34

Trost2022 G

BOD1L1

PN400194

chr4:
13574351-13574353

CTT

C

intronic

Unknown

-

Leblond2019 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
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