Variant Results

or

or

Results for "ABCA7"

Variant Events: 23

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

ABCA7

1-0269-003

chr19:
1040500-1040506

TGTAAAG

T

intronic

De novo

-

-

Yuen2017 G

ABCA7

1-0435-003

chr19:
1042882-1042882

C

T

intronic

De novo

-

-

Yuen2017 G

ABCA7

14399.p1

chr19:
1063613-1063613

G

A

exonic

De novo

nonsynonymous SNV

NM_019112

c.G5783A

p.G1928E

23.5

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

ABCA7

SP0117040

chr19:
1062096-1062096

T

G

intronic

De novo

-

-

Fu2022 E

ABCA7

SP0024272

chr19:
1061718-1061720

ATC

A

intronic

De novo

-

-

Fu2022 E

ABCA7

SP0105842

chr19:
1058827-1058827

T

A

exonic

De novo

nonsynonymous SNV

NM_019112

c.T5288A

p.V1763E

1.005

-

Fu2022 E

ABCA7

Shi2013:2

chr19:
1064171-1064171

G

T

exonic

Inherited

nonsynonymous SNV

NM_019112

c.G5963T

p.C1988F

17.01

Shi2013 G

ABCA7

SP0064238

chr19:
1046900-1046900

G

T

exonic

De novo

nonsynonymous SNV

NM_019112

c.G1722T

p.E574D

23.6

-

Fu2022 E

ABCA7

SP0029297

chr19:
1054434-1054434

G

A

intronic

De novo

-

-

Fu2022 E

ABCA7

Lim2017:70514

chr19:
1063613-1063613

G

A

exonic

De novo

nonsynonymous SNV

NM_019112

c.G5783A

p.G1928E

23.5

-

Lim2017 E

ABCA7

SP0035654

chr19:
1047102-1047102

G

A

intronic

De novo

-

-

Fu2022 E

ABCA7

PN400100

chr19:
1047507-1047514

AGGAGCAG

A

exonic

Unknown

frameshift deletion

NM_019112

c.2124_2130del

p.E708fs

-

Leblond2019 E

ABCA7

08C74198

chr19:
1063719-1063719

G

A

intronic

De novo

-

-

Satterstrom2020 E

ABCA7

Shi2013:1

chr19:
1064171-1064171

G

T

exonic

Inherited

nonsynonymous SNV

NM_019112

c.G5963T

p.C1988F

17.01

Shi2013 G

ABCA7

iHART2515

chr19:
1046815-1046815

T

G

exonic

De novo

nonsynonymous SNV

NM_019112

c.T1637G

p.L546R

20.2

-

Ruzzo2019 G

ABCA7

iHART2517

chr19:
1046815-1046815

T

G

exonic

De novo

nonsynonymous SNV

NM_019112

c.T1637G

p.L546R

20.2

-

Ruzzo2019 G

ABCA7

70514

chr19:
1063613-1063613

G

A

exonic

De novo

nonsynonymous SNV

NM_019112

c.G5783A

p.G1928E

23.5

-

Fu2022 E

ABCA7

Viggiano2022:105.3

chr19:
1045173-1045173

G

C

exonic

Paternal

nonsynonymous SNV

NM_019112

c.G1388C

p.R463P

28.8

Viggiano2022 GT

ABCA7

PN400284

chr19:
1055907-1055908

CT

C

exonic

Unknown

frameshift deletion

NM_019112

c.4208delT

p.L1403fs

-

Leblond2019 E

ABCA7

PN400306

chr19:
1055907-1055908

CT

C

exonic

Unknown

frameshift deletion

NM_019112

c.4208delT

p.L1403fs

-

Leblond2019 E

ABCA7

EGAN00001101164

chr19:
1041885-1041885

T

G

exonic

De novo

synonymous SNV

NM_019112

c.T216G

p.G72G

-

-

Satterstrom2020 E

ABCA7

iHART2335

chr19:
1045231-1045231

G

C

splicing

Paternal

splicing

17.73

Ruzzo2019 G

ABCA7

iHART2334

chr19:
1045231-1045231

G

C

splicing

Paternal

splicing

17.73

Ruzzo2019 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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