Variant Results

or

Results for "PEAR1"

Variant Events: 15

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

PEAR1

12888.p1

chr1:
156878507-156878507

C

G

exonic

De novo

nonsynonymous SNV

NM_001080471

c.C1176G

p.N392K

16.9

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

PEAR1

2-1725-003

chr1:
156880935-156880935

T

C

intronic

De novo

-

Trost2022 G

PEAR1

13425.p1

chr1:
156883034-156883034

C

T

exonic

De novo

nonsynonymous SNV

NM_001080471

c.C2471T

p.T824I

32.0

-

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

PEAR1

2-1428-003

chr1:
156880919-156880919

T

C

intronic

De novo

-

Trost2022 G

PEAR1

SP0232277

chr1:
156883794-156883794

C

A

exonic

De novo

nonsynonymous SNV

NM_001080471

c.C2864A

p.P955H

11.28

-

Trost2022 G

PEAR1

SP0249763

chr1:
156873718-156873718

A

C

UTR5

De novo

-

Trost2022 G

PEAR1

SP0033571

chr1:
156873718-156873718

A

C

UTR5

De novo

-

Trost2022 G

PEAR1

3-0454-000

chr1:
156874217-156874217

C

T

intronic

De novo

-

Trost2022 G

PEAR1

SP0247473

chr1:
156873724-156873724

A

C

exonic

De novo

synonymous SNV

NM_001080471

c.A6C

p.S2S

-

Trost2022 G

PEAR1

SSC10273

chr1:
156883034-156883034

C

T

exonic

De novo

nonsynonymous SNV

NM_001080471

c.C2471T

p.T824I

32.0

-

Fu2022 E
Lim2017 E
Trost2022 G

PEAR1

mAGRE4810

chr1:
156883890-156883911

ATGGTGAGCCCTCCCTCTCCAC

A

exonic

Maternal

frameshift deletion

NM_001080471

c.2961_2962del

p.H987fs

-

7.112E-5

Cirnigliaro2023 G

PEAR1

mAGRE4818

chr1:
156883734-156883735

CA

C

exonic

Maternal

frameshift deletion

NM_001080471

c.2805delA

p.P935fs

-

Cirnigliaro2023 G

PEAR1

SP0077795

chr1:
156883829-156883829

C

A

exonic

De novo

synonymous SNV

NM_001080471

c.C2899A

p.R967R

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PEAR1

SP0027116

chr1:
156883229-156883229

G

A

exonic

De novo

nonsynonymous SNV

NM_001080471

c.G2558A

p.G853D

6.228

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PEAR1

SP0085744

chr1:
156883167-156883167

C

T

intronic

De novo

-

Fu2022 E
Trost2022 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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