Variant Results

or

Results for "APLP2"

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

APLP2

AU3703302

chr11:
129963071-129963071

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

APLP2

MT_70.3

chr11:
129939262-129939262

C

G

upstream

De novo

-

Trost2022 G

APLP2

3-0107-000

chr11:
129996709-129996709

G

A

exonic

De novo

nonsynonymous SNV

NM_001142278
NM_001142277
NM_001142276
NM_001243299
NM_001642

c.G518A
c.G1037A
c.G1205A
c.G1235A
c.G1205A

p.R173H
p.R346H
p.R402H
p.R412H
p.R402H

15.6

4.118E-5

Yuen2015 G
Zhou2022 GE

APLP2

5-5130-004

chr11:
129960574-129960574

G

A

intronic

De novo

-

Trost2022 G

APLP2

12714.p1

chr11:
130005607-130005607

G

A

exonic

nonsynonymous SNV

NM_001142278
NM_001142277
NM_001142276
NM_001243299
NM_001642

c.G1147A
c.G1666A
c.G1834A
c.G1864A
c.G1834A

p.E383K
p.E556K
p.E612K
p.E622K
p.E612K

26.0

-

Zhou2022 GE

APLP2

SP0010732

chr11:
130005567-130005576

GTTCCACCCC

G

exonic

nonframeshift deletion

NM_001142278
NM_001142277
NM_001142276
NM_001243299
NM_001642

c.1108_1116del
c.1627_1635del
c.1795_1803del
c.1825_1833del
c.1795_1803del

p.370_372del
p.543_545del
p.599_601del
p.609_611del
p.599_601del

-

8.0E-4

Zhou2022 GE

APLP2

AU030104

chr11:
129960793-129960793

C

A

intronic

De novo

-

Yuen2017 G

APLP2

11804-1

chr11:
129992437-129992437

A

C

intronic

De novo

-

Fu2022 E

APLP2

11077.p1

chr11:
130011497-130011497

T

C

intronic

De novo

-

8.338E-5

Satterstrom2020 E

APLP2

SSC02583

chr11:
130011497-130011497

T

C

intronic

De novo

-

8.338E-5

Trost2022 G

APLP2

11089.p1

chr11:
129974139-129974139

C

T

intronic

De novo

-

Turner2016 G

APLP2

1-0344-003

chr11:
129964799-129964799

G

C

intronic

De novo

-

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
	More