Variant Results

or

Results for "ABCB9"

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

ABCB9

7-0129-003

chr12:
123457232-123457232

A

G

intergenic

De novo

-

Yuen2017 G

ABCB9

2-0045-003

chr12:
123410966-123410966

C

A

intronic

De novo

-

Yuen2016 G

ABCB9

1000191007235331-C

chr12:
123414639-123414639

G

A

exonic

De novo

nonsynonymous SNV

NM_001243013
NM_019624
NM_019625

c.C1931T
c.C1991T
c.C2120T

p.A644V
p.A664V
p.A707V

35.0

2.0E-4

Fu2022 E

ABCB9

AU049304

chr12:
123442965-123442965

G

A

intronic

De novo

-

Yuen2017 G

ABCB9

7-0123-003

chr12:
123446762-123446762

G

A

intronic

De novo

-

Yuen2017 G

ABCB9

1-0559-003

chr12:
123421652-123421652

C

T

intronic

De novo

-

Yuen2017 G

ABCB9

1282011

chr12:
123434494-123434494

C

T

intronic

De novo

-

2.478E-5

Satterstrom2020 E

ABCB9

11367.p1

chr12:
123430687-123430687

C

T

exonic

De novo

nonsynonymous SNV

NM_001243013
NM_001243014
NM_019624
NM_019625
NM_203444

c.G1136A
c.G1136A
c.G1136A
c.G1136A
c.G1136A

p.R379Q
p.R379Q
p.R379Q
p.R379Q
p.R379Q

36.0

4.13E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

ABCB9

2-1549-003

chr12:
123408114-123408114

A

G

intronic

De novo

-

Yuen2017 G

ABCB9

SSC00978

chr12:
123430687-123430687

C

T

exonic

De novo

nonsynonymous SNV

NM_001243013
NM_001243014
NM_019624
NM_019625
NM_203444

c.G1136A
c.G1136A
c.G1136A
c.G1136A
c.G1136A

p.R379Q
p.R379Q
p.R379Q
p.R379Q
p.R379Q

36.0

4.13E-5

Fu2022 E
Lim2017 E

ABCB9

13985.p1

chr12:
123414608-123414608

G

A

exonic

Mosaic

synonymous SNV

NM_001243013
NM_019624
NM_019625

c.C1962T
c.C2022T
c.C2151T

p.R654R
p.R674R
p.R717R

-

1.0E-4

Dou2017 E

ABCB9

SP0097681

chr12:
123414454-123414454

C

T

UTR3

De novo

-

1.468E-5

Fu2022 E

ABCB9

SJD_10

chr12:
123444365-123444365

C

T

exonic

Paternal

nonsynonymous SNV

NM_001243013
NM_001243014
NM_019624
NM_019625
NM_203444

c.G418A
c.G418A
c.G418A
c.G418A
c.G418A

p.V140M
p.V140M
p.V140M
p.V140M
p.V140M

14.42

6.112E-5

Toma2013 E

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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