Variant Results

or

or

Results for "DERA"

Variant Events: 13

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

DERA

AU2248302

chr12:
16319814-16319814

C

T

intergenic

De novo

-

-

Yuen2017 G

DERA

2-1066-003

chr12:
16250079-16250079

A

C

intergenic

De novo

-

-

Yuen2017 G

DERA

5-0105-003

chr12:
16107622-16107622

G

A

intronic

De novo

-

-

Yuen2017 G

DERA

2-1508-004

chr12:
16111164-16111164

A

ATATCAT

exonic

De novo

nonframeshift insertion

NM_001300779
NM_015954

c.172_173insTATCAT
c.172_173insTATCAT

p.T58delinsISS
p.T58delinsISS

-

Yuen2017 G

DERA

2-0145-004

chr12:
16073831-16073833

GTC

G

intronic

De novo

-

-

Yuen2017 G

DERA

AU1987302

chr12:
16122688-16122689

AG

A

intronic

De novo

-

-

Yuen2017 G

DERA

1-0210-004

chr12:
16295710-16295710

T

C

intergenic

De novo

-

-

Yuen2017 G

DERA

2-1277-003

chr12:
16162164-16162164

T

A

intronic

De novo

-

-

Yuen2017 G

DERA

12572.p1

chr12:
16308071-16308071

G

C

intergenic

De novo

-

-

Wilfert2021 G

DERA

TAS_F0143Y

chr12:
16109827-16109827

A

G

intronic

De novo

-

-

Satterstrom2020 E

DERA

AU3913302

chr12:
16130662-16130662

G

A

intronic

De novo

-

-

Yuen2017 G

DERA

iHART2051

chr12:
16112859-16112859

G

A

splicing

Paternal

splicing

17.09

-

Ruzzo2019 G

DERA

iHART2049

chr12:
16112859-16112859

G

A

splicing

Paternal

splicing

17.09

-

Ruzzo2019 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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