Variant Results

or

Results for "APLF"

Variant Events: 14

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

APLF

7-0342-003

chr2:
68766296-68766296

A

T

intronic

De novo

-

Trost2022 G

APLF

SP0069486

chr2:
68790396-68790396

A

G

intronic

De novo

-

Trost2022 G

APLF

2-1505-003

chr2:
68770117-68770117

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

APLF

1-1158-003

chr2:
68697410-68697410

G

T

intronic

De novo

-

Trost2022 G

APLF

11459.p1

chr2:
68794512-68794512

G

A

exonic

De novo

synonymous SNV

NM_173545

c.G1326A

p.T442T

-

4.242E-5

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

APLF

7-0240-003

chr2:
68712333-68712333

T

A

intronic

De novo

-

Trost2022 G

APLF

mAGRE2478

chr2:
68794471-68794471

A

G

splicing

Maternal

splicing

16.26

4.0E-4

Cirnigliaro2023 G

APLF

2-1163-003

chr2:
68716152-68716152

T

G

intronic

De novo

-

Yuen2017 G

APLF

iHART2478

chr2:
68794471-68794471

A

G

splicing

Maternal

splicing

16.26

4.0E-4

Ruzzo2019 G

APLF

2-0219-004

chr2:
68781693-68781693

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

APLF

AU239A

chr2:
68794483-68794483

C

A

exonic

De novo

nonsynonymous SNV

NM_173545

c.C1297A

p.Q433K

22.1

0.0307

DeRubeis2014 E
Kosmicki2017 E

APLF

2-0102-003

chr2:
68784563-68784563

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

APLF

mAGRE4603

chr2:
68794471-68794471

A

G

splicing

Maternal

splicing

16.26

4.0E-4

Cirnigliaro2023 G

APLF

5413

chr2:
68794512-68794512

G

A

exonic

De novo

synonymous SNV

NM_173545

c.G1326A

p.T442T

-

4.242E-5

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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