Variant Results

or

or

Results for "SPIDR"

Variant Events: 27

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

SPIDR

13766.p1

chr8:
48206532-48206532

C

T

exonic

De novo

synonymous SNV

NM_001282916
NM_001080394
NM_001282919

c.C228T
c.C438T
c.C258T

p.D76D
p.D146D
p.D86D

-

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

SPIDR

AU063005

chr8:
48441328-48441328

A

G

intronic

De novo

-

-

Yuen2017 G

SPIDR

13766_p1

chr8:
48206532-48206532

C

T

exonic

De novo

synonymous SNV

NM_001282916
NM_001080394
NM_001282919

c.C228T
c.C438T
c.C258T

p.D76D
p.D146D
p.D86D

-

-

Fu2022 E

SPIDR

7-0123-003

chr8:
48447634-48447634

C

T

intronic

De novo

-

-

Yuen2017 G

SPIDR

2-1422-003

chr8:
48632066-48632066

G

A

intronic

De novo

-

-

Yuen2017 G

SPIDR

5-0045-003

chr8:
48480093-48480093

A

T

intronic

De novo

-

-

Yuen2017 G

SPIDR

CC935.201

chr8:
48641581-48641581

C

T

exonic

De novo

nonsynonymous SNV

NM_001282916
NM_001080394
NM_001282919

c.C2312T
c.C2522T
c.C2342T

p.S771L
p.S841L
p.S781L

10.58

-

Satterstrom2020 E

SPIDR

2-1521-003

chr8:
48608733-48608733

C

T

intronic

De novo

-

-

Yuen2017 G

SPIDR

1-0563-003

chr8:
48236667-48236667

A

AAG

intronic

De novo

-

-

Yuen2017 G

SPIDR

AU1640302

chr8:
48359794-48359794

G

C

intronic

De novo

-

-

Yuen2017 G

SPIDR

2-0264-004

chr8:
48548027-48548027

A

G

intronic

De novo

-

-

Yuen2017 G

SPIDR

7-0188-003

chr8:
48616728-48616728

T

C

intronic

De novo

-

-

Yuen2017 G

SPIDR

AU2458303

chr8:
48506288-48506288

T

C

intronic

De novo

-

-

Yuen2017 G

SPIDR

AU3702306

chr8:
48615188-48615188

C

G

intronic

De novo

-

-

Yuen2017 G

SPIDR

AU4029301

chr8:
48220635-48220635

G

A

intronic

De novo

-

-

Yuen2017 G

SPIDR

AU4327303

chr8:
48465477-48465477

T

C

intronic

De novo

-

-

Yuen2017 G

SPIDR

AU4246304

chr8:
48404807-48404807

A

T

intronic

De novo

-

-

Yuen2017 G

SPIDR

2-1296-003

chr8:
48602860-48602860

C

T

intronic

De novo

-

-

Yuen2017 G

SPIDR

AU3692301

chr8:
48419827-48419827

A

G

intronic

De novo

-

-

Yuen2017 G

SPIDR

AU4223302

chr8:
48254048-48254048

A

G

intronic

De novo

-

-

Yuen2017 G

SPIDR

2-1116-003

chr8:
48516915-48516915

A

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

SPIDR

1-0563-004

chr8:
48236667-48236667

A

AAG

intronic

De novo

-

-

Yuen2017 G

SPIDR

2-1268-003

chr8:
48281350-48281350

G

A

intronic

De novo

-

-

Yuen2017 G

SPIDR

CC935_201

chr8:
48641581-48641581

C

T

exonic

De novo

nonsynonymous SNV

NM_001282916
NM_001080394
NM_001282919

c.C2312T
c.C2522T
c.C2342T

p.S771L
p.S841L
p.S781L

10.58

-

Fu2022 E

SPIDR

GEA440

chr8:
48614537-48614537

G

A

exonic

De novo

nonsynonymous SNV

NM_001282916
NM_001080394
NM_001282919

c.G1727A
c.G1937A
c.G1757A

p.R576H
p.R646H
p.R586H

15.15

Fu2022 E

SPIDR

SP0100876

chr8:
48647822-48647822

A

G

intronic

De novo

-

-

Fu2022 E

SPIDR

SP0053238

chr8:
48511838-48511838

A

C

intronic

De novo

-

-

Fu2022 E

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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