Variant Results

or

Results for "SPECC1"

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

SPECC1

AU4483301

chr17:
20190188-20190188

G

A

intronic

De novo

-

Yuen2017 G

SPECC1

1-0299-004

chr17:
20111084-20111084

C

A

intronic

De novo

-

Yuen2017 G

SPECC1

CC963.202

chr17:
20108981-20108981

G

A

exonic

De novo

nonsynonymous SNV

NM_001033554
NM_001033555
NM_001243438
NM_001033553
NM_001243439
NM_152904

c.G1376A
c.G1376A
c.G1376A
c.G1619A
c.G1619A
c.G1619A

p.C459Y
p.C459Y
p.C459Y
p.C540Y
p.C540Y
p.C540Y

0.001

-

Lim2017 E
Satterstrom2020 E

SPECC1

1-0885-003

chr17:
20169568-20169568

C

T

intronic

De novo

-

Yuen2017 G

SPECC1

1-0414-005

chr17:
20008259-20008259

G

A

intronic

De novo

-

Yuen2017 G

SPECC1

A25

chr17:
19937486-19937486

C

T

intronic

De novo

-

Wu2018 G

SPECC1

A16

chr17:
20069897-20069897

A

C

intronic

De novo

-

Wu2018 G

SPECC1

AU005213

chr17:
20120981-20120981

C

T

intronic

De novo

-

Yuen2017 G

SPECC1

AU4452302

chr17:
20103447-20103447

T

C

intronic

De novo

-

Yuen2017 G

SPECC1

1-0590-003

chr17:
20195407-20195407

G

A

intronic

De novo

-

Yuen2017 G

SPECC1

AU060004

chr17:
19945228-19945228

G

T

intronic

De novo

-

Yuen2017 G

SPECC1

AU3794302

chr17:
20180630-20180630

A

G

intronic

De novo

-

Yuen2017 G

SPECC1

AU4246304

chr17:
20001271-20001271

C

T

intronic

De novo

-

Yuen2017 G

SPECC1

AC02-1224-01

chr17:
20013702-20013702

A

G

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E

SPECC1

AU017304

chr17:
20121501-20121501

C

T

intronic

De novo

-

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
	More