Variant Results

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Results for "ABCA9"

Variant Events: 18

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

ABCA9

13152.p1

chr17:
67045420-67045420

A

G

intronic

Mosaic, De novo

-

-

Dou2017 E
Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

ABCA9

AU059903

chr17:
66995262-66995284

TTTATTATTATTATTATTATTAT

TTTATTATTATTATTATTAT

intronic

De novo

-

-

Yuen2017 G

ABCA9

1-0272-003

chr17:
67023477-67023477

A

T

exonic

De novo

nonsynonymous SNV

NM_080283

c.T1905A

p.D635E

20.1

Trost2022 G
Yuen2017 G

ABCA9

MSSNG00231-003

chr17:
67042157-67042157

A

T

intronic

De novo

-

-

Trost2022 G

ABCA9

AM01ZF-04

chr17:
67049502-67049502

C

T

intronic

De novo

-

-

Trost2022 G

ABCA9

SP0116179

chr17:
66986938-66986939

GA

G

intronic

De novo

-

Trost2022 G

ABCA9

AU017703

chr17:
67038845-67038845

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ABCA9

2-1817-003

chr17:
66971646-66971646

C

T

UTR3

De novo

-

-

Trost2022 G

ABCA9

mAGRE1340

chr17:
67004376-67004376

T

A

exonic

Maternal

stopgain

NM_080283

c.A3148T

p.K1050X

40.0

Cirnigliaro2023 G

ABCA9

Cukier2014:37994

chr17:
67023524-67023524

C

T

exonic

Unknown

nonsynonymous SNV

NM_080283

c.G1858A

p.G620S

21.2

Cukier2014 E

ABCA9

CC1122.202

chr17:
67045676-67045676

T

C

intronic

De novo

-

-

Satterstrom2020 E
Trost2022 G

ABCA9

iHART1894

chr17:
67020361-67020365

ATTTG

A

exonic

Unknown

frameshift deletion

NM_080283

c.2271_2274del

p.N757fs

-

Ruzzo2019 G

ABCA9

SSC06613

chr17:
67045420-67045420

A

G

intronic

De novo

-

-

Fu2022 E
Trost2022 G

ABCA9

mAGRE1894

chr17:
67020361-67020365

ATTTG

A

exonic

Paternal

frameshift deletion

NM_080283

c.2271_2274del

p.N757fs

-

Cirnigliaro2023 G

ABCA9

AU3806304

chr17:
67014689-67014689

G

A

exonic

Paternal

stopgain

NM_080283

c.C2632T

p.Q878X

27.1

Cirnigliaro2023 G

ABCA9

7-0465-003

chr17:
67029955-67029955

T

C

exonic

De novo

synonymous SNV

NM_080283

c.A1188G

p.P396P

-

-

Trost2022 G
Zhou2022 GE

ABCA9

mAGRE5157

chr17:
67004376-67004376

T

A

exonic

Maternal

stopgain

NM_080283

c.A3148T

p.K1050X

40.0

Cirnigliaro2023 G

ABCA9

mAGRE1342

chr17:
67004376-67004376

T

A

exonic

Maternal

stopgain

NM_080283

c.A3148T

p.K1050X

40.0

Cirnigliaro2023 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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