Variant Results

or

Results for "ABCC4"

Variant Events: 46

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

ABCC4

5-5040-003

chr13:
95680057-95680057

G

A

intronic

De novo

-

Trost2022 G

ABCC4

13023_p1

chr13:
95860139-95860139

T

C

exonic

De novo

nonsynonymous SNV

NM_001301830
NM_001105515
NM_001301829
NM_005845

c.A601G
c.A826G
c.A826G
c.A826G

p.M201V
p.M276V
p.M276V
p.M276V

17.16

-

Fu2022 E

ABCC4

1-0057-003

chr13:
95686772-95686779

GTGCTTGT

G

intronic

De novo

-

Trost2022 G

ABCC4

SP0085951

chr13:
95696676-95696676

G

A

exonic

De novo

nonsynonymous SNV

NM_001301829
NM_005845

c.C3332T
c.C3473T

p.T1111I
p.T1158I

11.12

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ABCC4

SP0018933

chr13:
95861808-95861808

G

A

exonic

De novo

nonsynonymous SNV

NM_001301830
NM_001105515
NM_001301829
NM_005845

c.C440T
c.C665T
c.C665T
c.C665T

p.A147V
p.A222V
p.A222V
p.A222V

13.78

8.277E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

ABCC4

iHART1146

chr13:
95899299-95899301

GAA

G

exonic

Paternal

frameshift deletion

NM_001105515
NM_001301829
NM_001301830
NM_005845

c.234_235del
c.234_235del
c.234_235del
c.234_235del

p.P78fs
p.P78fs
p.P78fs
p.P78fs

-

Ruzzo2019 G

ABCC4

1-0627-005

chr13:
95838739-95838739

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABCC4

iHART1145

chr13:
95899299-95899301

GAA

G

exonic

Paternal

frameshift deletion

NM_001105515
NM_001301829
NM_001301830
NM_005845

c.234_235del
c.234_235del
c.234_235del
c.234_235del

p.P78fs
p.P78fs
p.P78fs
p.P78fs

-

Ruzzo2019 G

ABCC4

5-0147-003

chr13:
95741699-95741699

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABCC4

2-1245-003

chr13:
96023149-96023155

GTTTTTT

GTTTTTTT

intergenic

De novo

-

Yuen2017 G

ABCC4

1-1202-003

chr13:
95889813-95889813

T

C

intronic

De novo

-

Trost2022 G

ABCC4

REACH000150

chr13:
95928023-95928023

G

A

intronic

De novo

-

Trost2022 G

ABCC4

7-0258-004

chr13:
95836385-95836385

C

T

intronic

De novo

-

Trost2022 G

ABCC4

1-0459-004

chr13:
95824167-95824167

G

A

intronic

De novo

-

Yuen2017 G

ABCC4

2-0088-003

chr13:
95871136-95871142

GACAGAC

AAAGAAA

intronic

De novo

-

Trost2022 G

ABCC4

2-0202-004

chr13:
95796501-95796501

G

AAAAT

intronic

De novo

-

Trost2022 G

ABCC4

2-0202-004

chr13:
95796504-95796504

G

T

intronic

De novo

-

Trost2022 G

ABCC4

2-1184-003

chr13:
95949249-95949249

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ABCC4

SSC07418

chr13:
95726589-95726589

G

A

intronic

De novo

-

Trost2022 G

ABCC4

2-0202-004

chr13:
95796496-95796497

AG

TAA

intronic

De novo

-

Trost2022 G

ABCC4

13298.p1

chr13:
95726589-95726589

G

A

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Turner2016 G

ABCC4

13023.p1

chr13:
95860139-95860139

T

C

exonic

De novo

nonsynonymous SNV

NM_001301830
NM_001105515
NM_001301829
NM_005845

c.A601G
c.A826G
c.A826G
c.A826G

p.M201V
p.M276V
p.M276V
p.M276V

17.16

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Turner2016 G
Zhou2022 GE

ABCC4

AU3849302

chr13:
96054426-96054426

A

G

intergenic

De novo

-

Yuen2017 G

ABCC4

2-1261-004

chr13:
96046048-96046048

T

A

intergenic

De novo

-

Yuen2017 G

ABCC4

AU076704

chr13:
95678272-95678272

G

A

intronic

De novo

-

Yuen2017 G

ABCC4

13515.p1

chr13:
95937488-95937488

T

C

intronic

De novo

-

Turner2016 G

ABCC4

13515.p1

chr13:
95937490-95937490

A

G

intronic

De novo

-

Turner2016 G

ABCC4

MSSNG00232-003

chr13:
95695990-95695990

G

A

exonic

De novo

synonymous SNV

NM_001301829
NM_005845

c.C3540T
c.C3681T

p.T1180T
p.T1227T

-

Trost2022 G
Zhou2022 GE

ABCC4

1-0656-003

chr13:
95852789-95852789

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABCC4

13964.p1

Complex Event; expand row to view variants

De novo

-

Turner2016 G
Turner2016 G

ABCC4

7-0123-003

chr13:
95701916-95701931

AAAATAAATAAATAAA

AAAATAAATAAA

intronic

De novo

-

Yuen2017 G

ABCC4

AU2410302

chr13:
95738811-95738811

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABCC4

111310

chr13:
95839058-95839058

T

A

exonic

nonsynonymous SNV

NM_001301830
NM_001105515
NM_001301829
NM_005845

c.A1217T
c.A1442T
c.A1442T
c.A1442T

p.Q406L
p.Q481L
p.Q481L
p.Q481L

32.0

-

Woodbury-Smith2022 E

ABCC4

AU2333302

chr13:
95732641-95732641

G

A

intronic

De novo

-

Yuen2017 G

ABCC4

mAGRE4268

chr13:
95887038-95887038

A

AT

exonic

Maternal

stopgain

NM_001105515
NM_001301829
NM_005845

c.356dupA
c.356dupA
c.356dupA

p.Y119_F120delinsX
p.Y119_F120delinsX
p.Y119_F120delinsX

-

Cirnigliaro2023 G

ABCC4

AU4372309

chr13:
96051563-96051563

G

T

intergenic

De novo

-

Yuen2017 G

ABCC4

mAGRE2623

chr13:
95815456-95815457

CT

C

exonic

Maternal

frameshift deletion

NM_001301829
NM_001301830
NM_001105515
NM_005845

c.2086delA
c.2002delA
c.2227delA
c.2227delA

p.S696fs
p.S668fs
p.S743fs
p.S743fs

-

Cirnigliaro2023 G

ABCC4

111312

chr13:
95768240-95768240

C

T

exonic

nonsynonymous SNV

NM_001301829
NM_001301830
NM_001105515
NM_005845

c.G2330A
c.G2246A
c.G2471A
c.G2471A

p.R777H
p.R749H
p.R824H
p.R824H

21.0

-

Woodbury-Smith2022 E

ABCC4

2-1508-004

chr13:
95796509-95796509

C

CATAGT

intronic

De novo

-

Yuen2017 G

ABCC4

AU2787302

chr13:
95986312-95986312

G

T

intergenic

De novo

-

Yuen2017 G

ABCC4

A29

chr13:
95856275-95856275

C

T

intronic

De novo

-

Wu2018 G

ABCC4

mAGRE1146

chr13:
95899299-95899301

GAA

G

exonic

Paternal

frameshift deletion

NM_001105515
NM_001301829
NM_001301830
NM_005845

c.234_235del
c.234_235del
c.234_235del
c.234_235del

p.P78fs
p.P78fs
p.P78fs
p.P78fs

-

Cirnigliaro2023 G

ABCC4

mAGRE1145

chr13:
95899299-95899301

GAA

G

exonic

Paternal

frameshift deletion

NM_001105515
NM_001301829
NM_001301830
NM_005845

c.234_235del
c.234_235del
c.234_235del
c.234_235del

p.P78fs
p.P78fs
p.P78fs
p.P78fs

-

Cirnigliaro2023 G

ABCC4

2-1629-003

chr13:
95887434-95887434

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABCC4

iHART2623

chr13:
95815456-95815457

CT

C

exonic

Maternal

frameshift deletion

NM_001301829
NM_001301830
NM_001105515
NM_005845

c.2086delA
c.2002delA
c.2227delA
c.2227delA

p.S696fs
p.S668fs
p.S743fs
p.S743fs

-

Ruzzo2019 G

ABCC4

AU000704

chr13:
95817366-95817366

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

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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