Variant Results

or

or

Results for "POC1B"

Variant Events: 18

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

POC1B

GEA469

chr12:
89853410-89853410

C

A

intronic

De novo

-

-

Fu2022 E

POC1B

SSC11659

chr12:
89918931-89918931

G

A

exonic

De novo

nonsynonymous SNV

NM_001199782

c.C326T

p.P109L

16.54

-

Trost2022 G

POC1B

2-0022-004

chr12:
89870171-89870171

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

POC1B

1-0534-003

chr12:
89965757-89965757

C

T

intergenic

De novo

-

-

Yuen2017 G

POC1B

14444.p1

chr12:
89918931-89918931

G

A

exonic

De novo

nonsynonymous SNV

NM_001199782

c.C326T

p.P109L

16.54

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

POC1B

SP0042354

chr12:
89919667-89919667

G

A

exonic

De novo

nonsynonymous SNV

NM_001199782

c.C266T

p.P89L

17.89

-

Fu2022 E
Trost2022 G
Zhou2022 GE

POC1B

SP0025529

chr12:
89919658-89919658

C

T

exonic

De novo

nonsynonymous SNV

NM_001199782

c.G275A

p.R92Q

16.96

-

Fu2022 E
Trost2022 G
Zhou2022 GE

POC1B

SP0011516

chr12:
89864133-89864133

A

C

intronic

De novo

-

-

Fu2022 E

POC1B

2-1591-003

chr12:
89892865-89892865

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

POC1B

3-0466-000A

chr12:
89860182-89860182

C

T

intronic

De novo

-

-

Trost2022 G

POC1B

3-0543-000

chr12:
89891350-89891350

C

T

intronic

De novo

-

-

Trost2022 G

POC1B

2-1454-003

chr12:
89951237-89951261

GATTTATTTATTTATTTATTTATTT

GATTTATTTATTTATTTATTT

intergenic

De novo

-

-

Yuen2017 G

POC1B

AU055603

chr12:
89840788-89840788

A

T

intronic

De novo

-

-

Trost2022 G

POC1B

AU4173301

chr12:
89912220-89912220

A

T

intronic

De novo

-

-

Trost2022 G
Trost2022 G
Trost2022 G
Yuen2017 G

POC1B

4-0026-003

chr12:
89858181-89858181

G

T

intronic

De novo

-

-

Trost2022 G

POC1B

1-0010-005

chr12:
89822340-89822340

A

AT

intronic

De novo

-

-

Yuen2017 G

POC1B

7-0197-003

chr12:
89821482-89821482

A

AAAAAC

intronic

De novo

-

-

Trost2022 G

POC1B

7-0390-004

chr12:
89831873-89831873

T

C

intronic

De novo

-

-

Trost2022 G

Source Variant Information

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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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