Variant Results

or

Results for "STAG1"

Variant Events: 36

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

STAG1

5-0050-004

chr3:
136283022-136283022

C

T

intronic

De novo

-

Yuen2017 G

STAG1

AU2000302

chr3:
136125505-136125505

G

A

intronic

De novo

-

Yuen2017 G

STAG1

AU075207

chr3:
136494758-136494764

GTTTTTT

GTTTTTTT

intergenic

De novo

-

Yuen2017 G

STAG1

2-1411-003

chr3:
136418519-136418519

A

G

intronic

De novo

-

Yuen2016 G

STAG1

1-0336-003

chr3:
136056027-136056027

T

TAATC

UTR3

De novo

-

Yuen2017 G

STAG1

1-0158-012

chr3:
136355961-136355961

T

C

intronic

De novo

-

Yuen2017 G

STAG1

2-1502-003

chr3:
136131281-136131281

T

C

intronic

De novo

-

Yuen2017 G

STAG1

AU1894303

chr3:
136099020-136099020

C

A

intronic

De novo

-

Yuen2017 G

STAG1

AU1894303

chr3:
136326946-136326946

A

C

intronic

De novo

-

Yuen2017 G

STAG1

2-1235-004

chr3:
136070676-136070676

G

A

intronic

De novo

-

Yuen2017 G

STAG1

AU1987302

chr3:
136243976-136243976

C

G

intronic

De novo

-

Yuen2017 G

STAG1

AU4412302

chr3:
136181148-136181148

G

A

intronic

De novo

-

Yuen2017 G

STAG1

7-0103-003

chr3:
136069317-136069317

G

C

intronic

De novo

-

Yuen2017 G

STAG1

5-0014-003

chr3:
136451425-136451425

G

A

intronic

De novo

-

Yuen2017 G

STAG1

AU3858303

chr3:
136091033-136091033

T

C

intronic

De novo

-

Yuen2017 G

STAG1

AU3858303

chr3:
136242081-136242081

C

T

intronic

De novo

-

Yuen2017 G

STAG1

AU024104

chr3:
136169842-136169842

C

T

intronic

De novo

-

Yuen2017 G

STAG1

2-1693-003

chr3:
136225198-136225198

C

T

intronic

De novo

-

Yuen2017 G

STAG1

SP0025466

chr3:
136170910-136170910

T

G

exonic

De novo

nonsynonymous SNV

NM_005862

c.A1393C

p.I465L

14.38

-

Fu2022 E

STAG1

5-0087-003

chr3:
136534430-136534430

T

A

intergenic

De novo

-

Yuen2017 G

STAG1

AU4013301

chr3:
136176076-136176076

G

A

intronic

De novo

-

Yuen2017 G

STAG1

13006.p1

chr3:
136057283-136057283

T

TTGA

exonic

De novo

nonframeshift insertion

NM_005862

c.3681_3682insTCA

p.R1228delinsSR

-

Iossifov2014 E
Kosmicki2017 E
Wilfert2021 G

STAG1

SSC07047

chr3:
136057283-136057283

T

TTGA

exonic

De novo

nonframeshift insertion

NM_005862

c.3681_3682insTCA

p.R1228delinsSR

-

Fu2022 E

STAG1

JASD_Fam0020

chr3:
136139953-136139953

C

A

exonic

De novo

nonsynonymous SNV

NM_005862

c.G2090T

p.R697L

22.5

-

Takata2018 E

STAG1

1-0381-003

chr3:
136080156-136080156

C

T

intronic

De novo

-

Yuen2017 G

STAG1

1-0324-003

chr3:
136504943-136504943

T

A

intergenic

De novo

-

Yuen2017 G

STAG1

1-0683-003

chr3:
136270177-136270177

C

T

intronic

De novo

-

Yuen2017 G

STAG1

2-0297-004

chr3:
136304462-136304462

A

T

intronic

De novo

-

Yuen2017 G

STAG1

AU2793303

chr3:
136503987-136503987

A

G

intergenic

De novo

-

Yuen2017 G

STAG1

AU4234302

chr3:
136401474-136401474

T

C

intronic

De novo

-

Yuen2017 G

STAG1

2-1442-003

chr3:
136259675-136259675

A

AAC

intronic

De novo

-

Yuen2016 G

STAG1

Krgovic2022:019146

chr3:
136085798-136085798

T

G

exonic

Unknown

nonsynonymous SNV

NM_005862

c.A2672C

p.K891T

25.0

-

Krgovic2022 E

STAG1

AU4496301

chr3:
136241833-136241833

T

C

intronic

De novo

-

Yuen2017 G

STAG1

AU065807

chr3:
136364941-136364941

T

A

intronic

De novo

-

Yuen2017 G

STAG1

AU030703

chr3:
136164166-136164166

C

A

intronic

De novo

-

Yuen2017 G

STAG1

372-06-106683

chr3:
136141396-136141398

ATC

A

exonic

De novo

frameshift deletion

NM_005862

c.1891_1892del

p.D631fs

-

Fu2022 E
Satterstrom2020 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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