Variant Results

or

Results for "DACH1"

Variant Events: 87

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

DACH1

11002.p1

chr13:
72120338-72120338

G

A

intronic

De novo

-

Turner2016 G

DACH1

A28

chr13:
73047634-73047634

C

T

intergenic

De novo

-

Wu2018 G

DACH1

2-0022-004

chr13:
72662061-72662061

C

T

intergenic

De novo

-

Yuen2017 G

DACH1

7-0103-003

chr13:
72823495-72823495

C

A

intergenic

De novo

-

Yuen2017 G

DACH1

1-0606-003

chr13:
72509918-72509918

T

C

intergenic

De novo

-

Yuen2017 G

DACH1

SP0070014

chr13:
72440475-72440475

T

C

exonic

nonsynonymous SNV

NM_004392
NM_080759
NM_080760

c.A433G
c.A433G
c.A433G

p.S145G
p.S145G
p.S145G

9.27

-

Zhou2022 GE

DACH1

1-0224-004

chr13:
72888464-72888464

G

T

intergenic

De novo

-

Yuen2017 G

DACH1

2-1169-003

chr13:
72779339-72779339

T

G

intergenic

De novo

-

Yuen2017 G

DACH1

AU003403

chr13:
73113110-73113110

C

A

intergenic

De novo

-

Yuen2017 G

DACH1

2-1137-003

chr13:
73197567-73197567

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

DACH1

1-0403-004

chr13:
72134055-72134055

G

T

exonic

De novo

synonymous SNV

NM_080759

c.C1338A

p.P446P

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

DACH1

AU4176302

chr13:
72671027-72671031

TTGTG

TTG

intergenic

De novo

-

Yuen2017 G

DACH1

AU1725306

chr13:
72199793-72199793

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DACH1

1-0264-006

chr13:
72112994-72112994

C

T

intronic

De novo

-

Trost2022 G

DACH1

MSSNG00424-003

chr13:
72114048-72114048

T

A

intronic

De novo

-

Trost2022 G

DACH1

7-0255-003

chr13:
72946900-72946900

C

G

intergenic

De novo

-

Yuen2017 G

DACH1

AU2310301

chr13:
72102821-72102821

A

T

intronic

De novo

-

Trost2022 G

DACH1

3-0484-000

chr13:
72104790-72104790

C

G

intronic

De novo

-

Trost2022 G

DACH1

AU056803

chr13:
73088048-73088048

G

C

intergenic

De novo

-

Yuen2017 G

DACH1

AU1995302

chr13:
72361041-72361041

A

T

intronic

De novo

-

Yuen2017 G

DACH1

1029

chr13:
72095878-72095878

C

T

intronic

De novo

-

Trost2022 G

DACH1

2-1353-003

chr13:
72079622-72079637

CTGTGTGTGTGTGTGT

CTGTGTGTGTGTGT

intronic

De novo

-

Yuen2017 G

DACH1

AU2320301

chr13:
72098919-72098920

AT

A

intronic

De novo

-

Trost2022 G

DACH1

2-1408-004

chr13:
72024564-72024564

G

A

intronic

De novo

-

Trost2022 G

DACH1

AU4365302

chr13:
72916776-72916776

C

T

intergenic

De novo

-

Yuen2017 G

DACH1

MT_20.3

chr13:
72039497-72039497

A

C

intronic

De novo

-

Trost2022 G

DACH1

REACH000284

chr13:
72260758-72260758

A

G

intronic

De novo

-

Trost2022 G

DACH1

A4

chr13:
72068711-72068711

G

A

intronic

De novo

-

Wu2018 G

DACH1

REACH000655

chr13:
72274465-72274465

G

A

intronic

De novo

-

Trost2022 G

DACH1

2-0300-003

chr13:
73248174-73248174

G

T

intergenic

De novo

-

Yuen2017 G

DACH1

REACH000718

chr13:
72222791-72222791

C

T

intronic

De novo

-

Trost2022 G

DACH1

2-0244-003

chr13:
72560765-72560765

C

A

intergenic

De novo

-

Yuen2017 G

DACH1

5-5223-003

chr13:
72236787-72236787

C

A

intronic

De novo

-

Trost2022 G

DACH1

5-5146-003

chr13:
72142607-72142607

T

C

intronic

De novo

-

Trost2022 G

DACH1

1-0289-004

chr13:
72198548-72198558

AATTGACAGCT

A

intronic

De novo

-

Trost2022 G

DACH1

4-0098-003

chr13:
72123296-72123296

T

C

intronic

De novo

-

Trost2022 G

DACH1

REACH000678

chr13:
72135760-72135760

A

C

intronic

De novo

-

Trost2022 G

DACH1

1-0763-004

chr13:
72243162-72243162

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DACH1

3-0080-000

chr13:
72806853-72806853

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

DACH1

2-1723-003

chr13:
72371613-72371614

TA

AT

intronic

De novo

-

Trost2022 G

DACH1

AU018010

chr13:
72576883-72576883

C

T

intergenic

De novo

-

Yuen2017 G

DACH1

3-0221-000

chr13:
72371613-72371614

TA

AT

intronic

De novo

-

Trost2022 G

DACH1

2-1406-003

chr13:
72281154-72281154

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

DACH1

MSSNG00352-003

chr13:
72369171-72369171

T

G

intronic

De novo

-

Trost2022 G

DACH1

2-1723-003

chr13:
72369388-72369390

GCT

AAG

intronic

De novo

-

Trost2022 G

DACH1

MT_154.3

chr13:
72331292-72331292

A

C

intronic

De novo

-

Trost2022 G

DACH1

1-1010-003

chr13:
72359158-72359167

GAAATAAAAT

G

intronic

De novo

-

Trost2022 G

DACH1

2-1511-003

chr13:
73230494-73230509

CAGAGAGAGAGAGAGA

CAGAGAGAGAGAGA

intergenic

De novo

-

Yuen2017 G

DACH1

AU004403

chr13:
72301214-72301214

C

A

intronic

De novo

-

Trost2022 G

DACH1

MSSNG00164-003

chr13:
72302099-72302099

C

A

intronic

De novo

-

Trost2022 G

DACH1

2-1291-003

chr13:
73210716-73210716

A

G

intergenic

De novo

-

Yuen2017 G

DACH1

AU3263301

chr13:
73041967-73041967

T

C

intergenic

De novo

-

Yuen2017 G

DACH1

MSSNG00134-003

chr13:
72436174-72436174

C

A

intronic

De novo

-

Trost2022 G

DACH1

1-0627-007

chr13:
72867996-72867996

C

T

intergenic

De novo

-

Yuen2017 G

DACH1

2-1322-004

chr13:
73098091-73098091

C

T

intergenic

De novo

-

Yuen2017 G

DACH1

2-1342-003

chr13:
72383554-72383554

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

DACH1

AU2221301

chr13:
72414027-72414027

C

T

intronic

De novo

-

Trost2022 G

DACH1

2-1386-003

chr13:
72793899-72793899

A

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

DACH1

AU2283301

chr13:
72431752-72431752

A

C

intronic

De novo

-

Trost2022 G

DACH1

A12

chr13:
73075556-73075556

A

G

intergenic

De novo

-

Wu2018 G

DACH1

5-5012-003

chr13:
72393055-72393055

G

A

intronic

De novo

-

Trost2022 G

DACH1

AU004403

chr13:
72410471-72410471

A

C

intronic

De novo

-

Trost2022 G

DACH1

2-1645-003

chr13:
72606987-72606987

T

C

intergenic

De novo

-

Yuen2017 G

DACH1

1-0010-005

chr13:
72866043-72866043

C

T

intergenic

De novo

-

Yuen2017 G

DACH1

5-0025-003

chr13:
72913083-72913083

C

T

intergenic

De novo

-

Yuen2017 G

DACH1

2-0132-004

chr13:
72588100-72588100

T

A

intergenic

De novo

-

Yuen2017 G

DACH1

AU3777301

chr13:
72920080-72920080

G

A

intergenic

De novo

-

Yuen2017 G

DACH1

AU059903

chr13:
72228600-72228600

A

G

intronic

De novo

-

Yuen2017 G

DACH1

1-0325-003

chr13:
72643912-72643912

T

C

intergenic

De novo

-

Yuen2017 G

DACH1

SP0010841

chr13:
72014837-72014837

A

G

intronic

De novo

-

Fu2022 E
Trost2022 G

DACH1

1-0200-004

chr13:
72104731-72104731

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DACH1

1-0150-003

chr13:
72483034-72483034

G

T

intergenic

De novo

-

Yuen2017 G

DACH1

2-0127-004

chr13:
73198360-73198360

A

G

intergenic

De novo

-

Yuen2017 G

DACH1

SP0034164

chr13:
72063089-72063089

T

C

intronic

De novo

-

Fu2022 E

DACH1

1-0186-005

chr13:
72771955-72771955

A

C

intergenic

De novo

-

Yuen2017 G

DACH1

1-0585-003

chr13:
72841221-72841221

C

T

intergenic

De novo

-

Yuen2017 G

DACH1

7-0082-003

chr13:
73126640-73126642

AGC

A

intergenic

De novo

-

Yuen2017 G

DACH1

1-0636-003

chr13:
73260172-73260175

TCCA

TCCACCA

intergenic

De novo

-

Yuen2017 G

DACH1

1-0986-003

chr13:
72973196-72973196

A

G

intergenic

De novo

-

Yuen2017 G

DACH1

1-0121-003

chr13:
73103987-73103987

G

T

intergenic

De novo

-

Yuen2017 G

DACH1

2-1369-003

chr13:
72339175-72339175

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

DACH1

5-0071-003

chr13:
72734690-72734690

C

T

intergenic

De novo

-

Yuen2017 G

DACH1

AU4145303

chr13:
72792092-72792092

A

C

intergenic

De novo

-

Yuen2017 G

DACH1

1-0375-003

chr13:
72552621-72552621

T

C

intergenic

De novo

-

Yuen2016 G

DACH1

2-0323-003

chr13:
72960514-72960514

T

C

intergenic

De novo

-

Yuen2017 G

DACH1

AU4029301

chr13:
72116107-72116107

C

T

intronic

De novo

-

Yuen2017 G

DACH1

AU074403

chr13:
73227770-73227777

AAAAAAAT

A

intergenic

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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