Variant Results

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Results for "ABCC2"

Variant Events: 12

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

ABCC2

SP0135299

chr10:
101611212-101611212

T

G

intronic

De novo

-

-

Fu2022 E

ABCC2

Lee2020:39

chr10:
101578577-101578577

C

T

exonic

nonsynonymous SNV

NM_000392

c.C2302T

p.R768W

24.1

Lee2020 T

ABCC2

08C73727

chr10:
101578555-101578555

T

A

exonic

De novo

nonsynonymous SNV

NM_000392

c.T2280A

p.N760K

20.2

-

Fu2022 E
Satterstrom2020 E

ABCC2

Lee2020:39

chr10:
101578849-101578849

C

T

exonic

stopgain

NM_000392

c.C2443T

p.R815X

41.0

Lee2020 T

ABCC2

13324.p1

chr10:
101606037-101606037

C

T

intronic

De novo

-

-

Turner2016 G

ABCC2

1-0067-005

chr10:
101572970-101572970

T

C

intronic

De novo

-

-

Yuen2017 G

ABCC2

2-1196-003

chr10:
101567519-101567519

A

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

ABCC2

NDAR_INVAR462JT4_wes1

chr10:
101603620-101603620

T

G

exonic

De novo

nonsynonymous SNV

NM_000392

c.T3806G

p.V1269G

13.41

Lim2017 E

ABCC2

2-0003-003

chr10:
101590441-101590441

C

G

intronic

De novo

-

-

Yuen2017 G

ABCC2

13575.p1

chr10:
101594216-101594216

T

C

exonic

Mosaic Pat.

nonsynonymous SNV

NM_000392

c.T3338C

p.L1113P

19.34

-

Dou2017 E

ABCC2

G01_GEA540HI

chr10:
101590300-101590300

A

G

intronic

De novo

-

-

Fu2022 E

ABCC2

12265-1

chr10:
101596021-101596021

T

G

exonic

De novo

nonsynonymous SNV

NM_000392

c.T3588G

p.C1196W

16.94

-

Fu2022 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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