Variant Results

or

Results for "PIBF1"

Variant Events: 30

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

PIBF1

2-0158-003

chr13:
73516004-73516004

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PIBF1

SP0253838

chr13:
73468038-73468038

A

T

exonic

De novo

nonsynonymous SNV

NM_006346

c.A1439T

p.N480I

16.21

-

Trost2022 G

PIBF1

4-0039-003

chr13:
73481665-73481665

T

C

intronic

De novo

-

Trost2022 G

PIBF1

3-0208-000

chr13:
73449793-73449796

CATT

C

intronic

De novo

-

Trost2022 G

PIBF1

MSSNG00421-003

chr13:
73464489-73464489

A

C

intronic

De novo

-

Trost2022 G

PIBF1

3-0436-000

chr13:
73363644-73363644

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PIBF1

1-0455-003

chr13:
73361953-73361953

C

TGTG

intronic

De novo

-

Trost2022 G

PIBF1

MSSNG00400-003

chr13:
73366525-73366525

T

G

intronic

De novo

-

Trost2022 G

PIBF1

IBS-ASD-9653-blood-wgs-ILLUMINA

chr13:
73374725-73374725

G

A

intronic

De novo

-

Kim2024 G

PIBF1

7-0371-004

chr13:
73573775-73573775

T

C

intronic

De novo

-

Trost2022 G

PIBF1

AU3638302

chr13:
73516958-73516958

A

T

intronic

De novo

-

Trost2022 G

PIBF1

REACH000681

chr13:
73536367-73536369

CAA

C

intronic

De novo

-

Trost2022 G

PIBF1

IBS-ASD-17783-blood-wgs-ILLUMINA

chr13:
73518339-73518339

C

A

intronic

De novo

-

Kim2024 G

PIBF1

IBS-ASD-9443-blood-wgs-ILLUMINA

chr13:
73457970-73457970

A

G

intronic

De novo

-

Kim2024 G

PIBF1

74-0352

chr13:
73429508-73429508

G

C

intronic

De novo

-

Michaelson2012 G

PIBF1

IBS-ASD-18753-blood-wgs-ILLUMINA

chr13:
73426519-73426519

C

T

intronic

De novo

-

Kim2024 G

PIBF1

mAGRE4099

chr13:
73396121-73396121

G

A

splicing

Maternal

splicing

23.3

-

Cirnigliaro2023 G

PIBF1

mAGRE2033

chr13:
73369495-73369495

A

G

splicing

Paternal

splicing

21.2

8.742E-6

Cirnigliaro2023 G

PIBF1

2-0264-004

chr13:
73468769-73468769

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PIBF1

mAGRE3018

chr13:
73573102-73573103

AC

A

exonic

Paternal

frameshift deletion

NM_006346

c.2193delC

p.D731fs

-

Cirnigliaro2023 G

PIBF1

mAGRE2158

chr13:
73572980-73573005

GATTCTCGTTAAGATGCATAGTAAAC

G

exonic

Paternal

frameshift deletion

NM_006346

c.2071_2095del

p.I691fs

-

Cirnigliaro2023 G

PIBF1

1-0547-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

PIBF1

5-0017-004

chr13:
73438839-73438839

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PIBF1

iHART3018

chr13:
73573102-73573103

AC

A

exonic

Paternal

frameshift deletion

NM_006346

c.2193delC

p.D731fs

-

Ruzzo2019 G

PIBF1

iHART2158

chr13:
73572980-73573005

GATTCTCGTTAAGATGCATAGTAAAC

G

exonic

Paternal

frameshift deletion

NM_006346

c.2071_2095del

p.I691fs

-

Ruzzo2019 G

PIBF1

iHART2033

chr13:
73369495-73369495

A

G

splicing

Paternal

splicing

21.2

8.742E-6

Ruzzo2019 G

PIBF1

SP0088169

chr13:
73482898-73482898

A

G

intronic

De novo

-

Fu2022 E

PIBF1

7-0032-003

chr13:
73387977-73387977

C

T

intronic

De novo

-

Yuen2017 G

PIBF1

1-0025-004

chr13:
73572932-73572932

A

G

intronic

De novo

-

9.33E-6

Tan2024 GE
Trost2022 G
Yuen2017 G

PIBF1

3-0111-000

chr13:
73403504-73403504

T

G

intronic

De novo

-

Yuen2016 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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