Variant Results

or

or

Results for "PEPD"

Variant Events: 19

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

PEPD

1-0405-003

chr19:
33998461-33998461

G

A

intronic

De novo

-

-

Yuen2017 G

PEPD

iHART2816

chr19:
33954967-33954967

G

A

exonic

Maternal

stopgain

NM_001166057
NM_000285

c.C358T
c.C550T

p.R120X
p.R184X

38.0

Ruzzo2019 G

PEPD

iHART2815

chr19:
33954967-33954967

G

A

exonic

Maternal

stopgain

NM_001166057
NM_000285

c.C358T
c.C550T

p.R120X
p.R184X

38.0

Ruzzo2019 G

PEPD

1-0862-003

chr19:
33954991-33954991

C

T

intronic

De novo

-

-

Yuen2017 G

PEPD

2-1254-003

chr19:
33934785-33934799

GCACACACACACACA

GCACACACACACA

intronic

De novo

-

-

Yuen2017 G

PEPD

63-449

chr19:
34109547-34109547

T

C

intergenic

Unknown

-

-

Michaelson2012 G

PEPD

12704.p1

chr19:
34003589-34003589

G

A

exonic

De novo

synonymous SNV

NM_000285
NM_001166056
NM_001166057

c.C111T
c.C111T
c.C111T

p.N37N
p.N37N
p.N37N

-

-

Krumm2015 E
Satterstrom2020 E

PEPD

1-0272-004

chr19:
33880414-33880414

A

C

intronic

De novo

-

-

Yuen2017 G

PEPD

2-1327-004

chr19:
34060209-34060209

C

T

intergenic

De novo

-

-

Yuen2017 G

PEPD

AU054303

chr19:
34056714-34056742

AAAAACAAAACAAAACAAAACAAAACAAA

AAAAACAAAACAAAACAAAACAAAACAAAACAAA

intergenic

De novo

-

-

Yuen2017 G

PEPD

14181.p1

chr19:
33892654-33892654

G

A

exonic

De novo

nonsynonymous SNV

NM_001166056
NM_001166057
NM_000285

c.C817T
c.C748T
c.C940T

p.R273C
p.R250C
p.R314C

14.66

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

PEPD

1-0452-003

chr19:
33934785-33934799

GCACACACACACACA

GCACACACACACA

intronic

De novo

-

-

Yuen2017 G

PEPD

2-0198-004

chr19:
33949739-33949739

G

GTGTGT

intronic

De novo

-

-

Yuen2017 G

PEPD

1-0222-003

chr19:
34005531-34005531

G

T

intronic

De novo

-

-

Yuen2017 G

PEPD

1-0514-003

chr19:
33997906-33997906

C

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

PEPD

5-0117-003

chr19:
33910310-33910310

C

A

intronic

De novo

-

-

Yuen2017 G

PEPD

1-0412-003

chr19:
33920504-33920504

T

C

intronic

De novo

-

-

Yuen2017 G

PEPD

AU3911302

chr19:
34110977-34110977

G

T

intergenic

De novo

-

-

Yuen2017 G

PEPD

1-0522-003

chr19:
33944144-33944144

T

G

intronic

De novo

-

-

Yuen2016 G
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
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