Variant Results

or

Results for "SPATS2"

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

SPATS2

1-0148-005

chr12:
49814523-49814523

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SPATS2

1-0446-003

chr12:
49886025-49886025

T

C

intronic

De novo

-

Trost2022 G

SPATS2

3-0345-000

chr12:
49916154-49916154

C

A

intronic

De novo

-

Trost2022 G

SPATS2

SP0104828

chr12:
49918516-49918516

C

T

exonic

De novo

nonsynonymous SNV

NM_001293286
NM_023071
NM_001293285

c.C1163T
c.C1163T
c.C1163T

p.T388I
p.T388I
p.T388I

9.786

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SPATS2

AU030104

chr12:
49776482-49776482

G

A

intronic

De novo

-

Yuen2017 G

SPATS2

AU3951302

chr12:
49762874-49762874

A

G

intronic

De novo

-

Yuen2017 G

SPATS2

PN400410

chr12:
49878411-49878411

G

A

exonic

Unknown

nonsynonymous SNV

NM_001293286
NM_023071
NM_001293285

c.G64A
c.G64A
c.G64A

p.V22I
p.V22I
p.V22I

29.4

0.0052

Leblond2019 E

SPATS2

1-0296-004

chr12:
49915097-49915097

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SPATS2

111290

chr12:
49918498-49918498

C

A

exonic

nonsynonymous SNV

NM_001293286
NM_023071
NM_001293285

c.C1145A
c.C1145A
c.C1145A

p.S382Y
p.S382Y
p.S382Y

25.1

8.237E-6

Woodbury-Smith2022 E

SPATS2

5-0131-003

chr12:
49863009-49863009

A

T

intronic

De novo

-

Yuen2017 G

SPATS2

12680.p1

chr12:
49852080-49852080

G

C

intronic

De novo

-

Turner2016 G

SPATS2

11089.p1

chr12:
49870810-49870810

C

T

intronic

De novo

-

Turner2016 G

SPATS2

1-0206-003

chr12:
49824165-49824165

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SPATS2

2-1207-003

chr12:
49923721-49923722

TC

T

intergenic

De novo

-

Yuen2016 G

SPATS2

AU4153301

chr12:
49811903-49811903

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SPATS2

7-0249-003

chr12:
49881779-49881785

ACTTCTT

ACTT

intronic

De novo

-

Yuen2017 G

SPATS2

1-0022-004

chr12:
49802422-49802422

T

G

intronic

De novo

-

Trost2022 G

SPATS2

PN400287

chr12:
49919826-49919826

T

TA

exonic

Unknown

stopgain

NM_001293286
NM_023071
NM_001293285

c.1427dupA
c.1427dupA
c.1427dupA

p.Y476_R477delinsX
p.Y476_R477delinsX
p.Y476_R477delinsX

-

0.0024

Leblond2019 E

SPATS2

AU2463301

chr12:
49865889-49865889

C

T

intronic

De novo

-

Trost2022 G

SPATS2

2-1402-003

chr12:
49866062-49866062

C

T

intronic

De novo

-

Trost2022 G

SPATS2

3-0787-000

chr12:
49856481-49856481

G

A

intronic

De novo

-

Trost2022 G

SPATS2

1-0581-003

chr12:
49865363-49865363

G

A

intronic

De novo

-

Trost2022 G

SPATS2

SP0104830

chr12:
49918516-49918516

C

T

exonic

nonsynonymous SNV

NM_001293286
NM_023071
NM_001293285

c.C1163T
c.C1163T
c.C1163T

p.T388I
p.T388I
p.T388I

9.786

-

Zhou2022 GE

SPATS2

5-5016-003

chr12:
49841256-49841256

G

A

intronic

De novo

-

Trost2022 G

SPATS2

1-0274-004

chr12:
49777327-49777327

A

T

intronic

De novo

-

Yuen2017 G

SPATS2

1-1018-003

chr12:
49856211-49856211

T

C

intronic

De novo

0.24

-

Trost2022 G
Zhou2022 GE

SPATS2

MSSNG00013-003

chr12:
49852080-49852080

G

C

intronic

De novo

-

Trost2022 G

SPATS2

2-1519-003

chr12:
49834151-49834151

G

A

intronic

De novo

-

Trost2022 G

SPATS2

AU030103

chr12:
49776482-49776482

G

A

intronic

De novo

-

Yuen2017 G

SPATS2

1-0098-003A

chr12:
49838173-49838174

AT

A

intronic

De novo

-

Trost2022 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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