Variant Results

or

Results for "APC2"

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

APC2

13264.p1

chr19:
1458039-1458039

G

A

exonic

De novo

nonsynonymous SNV

NM_005883

c.G1283A

p.R428H

32.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

APC2

SP0041996

chr19:
1462182-1462182

C

CGG

intronic

De novo

-

Fu2022 E

APC2

11841.p1

chr19:
1469979-1469979

G

C

exonic

nonsynonymous SNV

NM_005883

c.G6679C

p.G2227R

11.46

-

Zhou2022 GE

APC2

SP0050804

chr19:
1466663-1466663

G

A

exonic

De novo

synonymous SNV

NM_005883

c.G3363A

p.S1121S

-

Fu2022 E
Trost2022 G
Zhou2022 GE

APC2

AU3636302

chr19:
1453301-1453301

C

T

exonic

De novo

nonsynonymous SNV

NM_005883

c.C197T

p.S66F

26.2

-

Cirnigliaro2023 G
Trost2022 G
Yuen2017 G
Zhou2022 GE

APC2

AU2100302

chr19:
1467588-1467588

G

A

exonic

De novo

nonsynonymous SNV

NM_005883

c.G4288A

p.G1430S

12.11

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

APC2

TRE_1853

chr19:
1465556-1465556

C

T

exonic

De novo

synonymous SNV

NM_005883

c.C2256T

p.A752A

-

Fu2022 E

APC2

1856023

chr19:
1461114-1461114

G

A

exonic

De novo

nonsynonymous SNV

NM_005883

c.G1600A

p.V534M

7.329

8.318E-6

Fu2022 E

APC2

Al-Mubarak2017:ASD-9

chr19:
1457245-1457245

G

C

intronic

Unknown

-

2.0E-4

Al-Mubarak2017 E

APC2

13264_p1

chr19:
1458039-1458039

G

A

exonic

De novo

nonsynonymous SNV

NM_005883

c.G1283A

p.R428H

32.0

-

Fu2022 E

APC2

Wang2023:520

chr19:
1469568-1469568

G

A

exonic

De novo

nonsynonymous SNV

NM_005883

c.G6268A

p.A2090T

0.034

-

Wang2023 E

APC2

SP0019700

chr19:
1460797-1460797

C

T

exonic

Mosaic, De novo

nonsynonymous SNV

NM_005883

c.C1462T

p.R488C

17.82

3.44E-5

Feliciano2019 E
Feliciano2019 E
Trost2022 G
Zhou2022 GE

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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