Variant Results

or

Results for "RUNX1"

Variant Events: 40

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

RUNX1

AU0638302

chr21:
36431604-36431604

T

A

intergenic

De novo

-

Yuen2017 G

RUNX1

AU1725306

chr21:
36337383-36337383

T

C

intronic

De novo

-

Yuen2017 G

RUNX1

1-0352-005

chr21:
36308149-36308149

T

C

intronic

De novo

-

Yuen2017 G

RUNX1

1-0898-003

chr21:
36684797-36684797

T

C

intergenic

De novo

-

Yuen2017 G

RUNX1

5-0041-003

chr21:
36263876-36263876

T

C

intronic

De novo

-

Yuen2017 G

RUNX1

AU024004

chr21:
36553042-36553052

AATTATTATTA

AATTA

intergenic

De novo

-

Yuen2017 G

RUNX1

PN400125

chr21:
36262032-36262032

C

A

intronic

Inherited

10.51

-

Leblond2019 E

RUNX1

AU3889305

chr21:
36383051-36383051

C

T

intronic

De novo

-

Yuen2017 G

RUNX1

AU4007302

chr21:
36512859-36512859

C

T

intergenic

De novo

-

Yuen2017 G

RUNX1

1-0059-003

chr21:
36658412-36658412

T

C

intergenic

De novo

-

Yuen2017 G

RUNX1

1-0373-003

chr21:
36350427-36350427

G

T

intronic

De novo

-

Yuen2017 G

RUNX1

1-0054-003

chr21:
36539327-36539327

T

G

intergenic

De novo

-

Yuen2017 G

RUNX1

AU031204

chr21:
36189680-36189682

TAA

TA

intronic

De novo

-

Yuen2017 G

RUNX1

7-0103-003

chr21:
36394700-36394700

C

T

intronic

De novo

-

Yuen2017 G

RUNX1

1-0303-004

chr21:
36529808-36529808

T

A

intergenic

De novo

-

Yuen2017 G

RUNX1

2-1627-003

chr21:
36562419-36562423

AGATT

A

intergenic

De novo

-

Yuen2017 G

RUNX1

1-0352-003

chr21:
36308149-36308149

T

C

intronic

De novo

-

Yuen2016 G

RUNX1

2-1363-003

chr21:
36366135-36366149

GACACACACACACAC

GACACACACACAC

intronic

De novo

-

Yuen2017 G

RUNX1

1-0606-003

chr21:
36215330-36215330

G

A

intronic

De novo

-

Yuen2017 G

RUNX1

2-1153-003

chr21:
36497327-36497327

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

RUNX1

14015.p1

chr21:
36492503-36492503

C

T

intergenic

De novo

-

Turner2016 G

RUNX1

2-1549-003

chr21:
36704070-36704070

C

T

intergenic

De novo

-

Yuen2017 G

RUNX1

2-0225-004

chr21:
36612161-36612161

G

C

intergenic

De novo

-

Yuen2017 G

RUNX1

2-1466-003

chr21:
36520425-36520425

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

RUNX1

AU4159302

chr21:
36338898-36338898

A

G

intronic

De novo

-

Yuen2017 G

RUNX1

2-0225-004

chr21:
36552200-36552200

A

G

intergenic

De novo

-

Yuen2017 G

RUNX1

AU2975302

chr21:
36382924-36382924

A

G

intronic

De novo

-

Yuen2017 G

RUNX1

2-1251-003

chr21:
36397623-36397623

G

A

intronic

De novo

-

Yuen2017 G

RUNX1

1-0051-005

chr21:
36303866-36303866

A

AG

intronic

De novo

-

Yuen2017 G

RUNX1

2-0242-004

chr21:
36437145-36437145

C

G

intergenic

De novo

-

Yuen2017 G

RUNX1

5-0040-003

chr21:
36690008-36690008

T

A

intergenic

De novo

-

Yuen2017 G

RUNX1

AU4211304

chr21:
36292592-36292592

T

C

intronic

De novo

-

Yuen2017 G

RUNX1

1-0585-003

chr21:
36183250-36183250

C

A

intronic

De novo

-

Yuen2017 G

RUNX1

AU4444304

chr21:
36247882-36247882

T

A

intronic

De novo

-

Yuen2017 G

RUNX1

1-0206-003

chr21:
36658982-36658982

A

AAGAATG

intergenic

De novo

-

Yuen2017 G

RUNX1

1-0044-003

chr21:
36303866-36303866

A

AG

intronic

De novo

-

Yuen2017 G

RUNX1

AU065807

chr21:
36512080-36512080

G

T

intergenic

De novo

-

Yuen2017 G

RUNX1

SP0026192

chr21:
36171715-36171715

A

G

exonic

De novo

nonsynonymous SNV

NM_001001890
NM_001754

c.T769C
c.T850C

p.S257P
p.S284P

20.6

-

Fu2022 E

RUNX1

AU070703

chr21:
36593990-36593990

T

C

intergenic

De novo

-

Yuen2017 G

RUNX1

2-1620-003

chr21:
36296195-36296195

A

AT

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
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