Variant Results

or

Results for "ASMT"

Variant Events: 50

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

ASMT

AU4269301

chrX:
1936892-1936892

G

A

intergenic

De novo

-

Yuen2017 G

ASMT

2-1140-003

chrX:
2035498-2035506

ATAGCCTAG

ATAG

intergenic

De novo

-

Yuen2017 G

ASMT

7-0251-003

chrX:
1752865-1752865

C

T

intronic

De novo

-

Yuen2017 G

ASMT

AU4269301

chrX:
1938694-1938694

G

C

intergenic

De novo

-

Yuen2017 G

ASMT

1-0994-003

chrX:
1882446-1882521

TTGAAGGTTGTGAAATCTGCCACGGCTGCCCTGAAGGTTGTGAAATCTGCCACGGCTGCCTTGAAGGTTGTGAAAT

TTGAAGGTTGTGAAATCTGCCACGGCTGCCTTGAAGGTTGTGAAAT

intergenic

De novo

-

Yuen2017 G

ASMT

5-0088-003

chrX:
1977842-1977842

G

A

intergenic

De novo

-

Yuen2017 G

ASMT

2-1280-003

chrX:
2035877-2035877

T

C

intergenic

De novo

-

Yuen2017 G

ASMT

7-0194-003

chrX:
1938984-1938985

GT

GTCAT

intergenic

De novo

-

Yuen2017 G

ASMT

AU4032306

chrX:
1774449-1774451

GTT

GTTT

intergenic

De novo

-

Yuen2017 G

ASMT

AU038203

chrX:
2035877-2035877

T

C

intergenic

De novo

-

Yuen2017 G

ASMT

2-1264-003

chrX:
1800730-1800737

TTCTCTCT

TTCTCT

intergenic

De novo

-

Yuen2017 G

ASMT

AU0039303

chrX:
1917419-1917419

T

C

intergenic

De novo

-

Yuen2017 G

ASMT

AU3782303

chrX:
1830510-1830510

G

A

intergenic

De novo

-

Yuen2017 G

ASMT

AU3900302

chrX:
1760590-1760590

G

A

intronic

De novo

-

Yuen2017 G

ASMT

AU3727302

chrX:
1748331-1748331

C

G

intronic

De novo

-

Yuen2017 G

ASMT

AU3900302

chrX:
1760600-1760600

C

T

intronic

De novo

-

Yuen2017 G

ASMT

1-0485-003

chrX:
1766798-1766798

C

T

intergenic

De novo

-

Yuen2017 G

ASMT

1-0445-003

chrX:
1775318-1775325

ACACGCAC

ACAC

intergenic

De novo

-

Yuen2017 G

ASMT

AU1521301

chrX:
1769405-1769415

TTTTTTTTTTG

T

intergenic

De novo

-

Yuen2017 G

ASMT

Shi2013:1

chrX:
1734136-1734136

A

C

exonic

Inherited

nonsynonymous SNV

NM_001171038
NM_001171039
NM_004043

c.A44C
c.A44C
c.A44C

p.Y15S
p.Y15S
p.Y15S

11.42

0.0018

Shi2013 G

ASMT

AU3937301

chrX:
1760359-1760359

C

G

intronic

De novo

-

Yuen2017 G

ASMT

AU3937301

chrX:
2035702-2035702

T

C

intergenic

De novo

-

Yuen2017 G

ASMT

AU4099301

chrX:
1936176-1936176

A

C

intergenic

De novo

-

Yuen2017 G

ASMT

13364.p1

chrX:
1865454-1865454

G

T

intergenic

De novo

-

Wilfert2021 G

ASMT

AU3997301

chrX:
1998365-1998365

T

C

intergenic

De novo

-

Yuen2017 G

ASMT

AU3782302

chrX:
1830510-1830510

G

A

intergenic

De novo

-

Yuen2017 G

ASMT

2-1441-003

chrX:
1800730-1800737

TTCTCTCT

TTCTCT

intergenic

De novo

-

Yuen2017 G

ASMT

1-0448-003

chrX:
1936906-1936907

GT

GTCAT

intergenic

De novo

-

Yuen2017 G

ASMT

AU3724302

chrX:
1893989-1893996

TTTTTTTG

T

intergenic

De novo

-

Yuen2017 G

ASMT

3-0432-000

chrX:
1882548-1882548

A

C

intergenic

De novo

-

Yuen2017 G

ASMT

2-1333-003

chrX:
1936439-1936442

TCAC

T

intergenic

De novo

-

Yuen2017 G

ASMT

3-0432-000

chrX:
2026576-2026576

G

C

intergenic

De novo

-

Yuen2017 G

ASMT

AU063004

chrX:
1940291-1940291

G

A

intergenic

De novo

-

Yuen2017 G

ASMT

AU2458303

chrX:
1936906-1936907

GT

GTCAT

intergenic

De novo

-

Yuen2017 G

ASMT

1-0007-003

chrX:
2035702-2035702

T

C

intergenic

De novo

-

Yuen2017 G

ASMT

AU2458303

chrX:
1938496-1938498

TAT

TATGAT

intergenic

De novo

-

Yuen2017 G

ASMT

2-1276-003

chrX:
1915018-1915025

GTATATAT

GTATAT

intergenic

De novo

-

Yuen2017 G

ASMT

AU3794301

chrX:
1937451-1937461

TAACAACAACA

TAACAACA

intergenic

De novo

-

Yuen2017 G

ASMT

AU2433302

chrX:
1858136-1858139

GTTT

GT

intergenic

De novo

-

Yuen2017 G

ASMT

AU3808305

chrX:
1775318-1775325

ACACGCAC

ACAC

intergenic

De novo

-

Yuen2017 G

ASMT

7-0035-003

chrX:
1963061-1963061

G

T

intergenic

De novo

-

Yuen2017 G

ASMT

AU045512

chrX:
1937202-1937202

T

TCAC

intergenic

De novo

-

Yuen2017 G

ASMT

AU3729303

chrX:
1936906-1936907

GT

GTCAT

intergenic

De novo

-

Yuen2017 G

ASMT

AU3632301

chrX:
1937862-1937867

TATGAT

TAT

intergenic

De novo

-

Yuen2017 G

ASMT

AU4235301

chrX:
1800704-1800707

CTTT

CT

intergenic

De novo

-

Yuen2017 G

ASMT

1-0215-006

chrX:
2030292-2030308

CTCTCTGTCTCTGTCTC

CTCTCTGTCTC

intergenic

De novo

-

Yuen2017 G

ASMT

Shi2013:2

chrX:
1734136-1734136

A

C

exonic

Inherited

nonsynonymous SNV

NM_001171038
NM_001171039
NM_004043

c.A44C
c.A44C
c.A44C

p.Y15S
p.Y15S
p.Y15S

11.42

0.0018

Shi2013 G

ASMT

AU2863302

chrX:
1939146-1939146

C

T

intergenic

De novo

-

Yuen2017 G

ASMT

2-1368-003

chrX:
2000214-2000214

G

A

intergenic

De novo

-

Yuen2017 G

ASMT

AU2863302

chrX:
1939144-1939144

G

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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