Variant Results

or

Results for "ACTRT1"

Variant Events: 37

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

ACTRT1

7-0143-003

chrX:
128356202-128356202

A

C

intergenic

De novo

-

Yuen2017 G

ACTRT1

AU3891304

chrX:
128420057-128420060

AACA

AA

intergenic

De novo

-

Yuen2017 G

ACTRT1

Li2017:16235

chrX:
127185839-127185840

CT

C

exonic

Unknown

frameshift deletion

NM_138289

c.346delA

p.R116fs

-

2.28E-5

Li2017 T

ACTRT1

1-0744-003

chrX:
127446285-127446285

C

A

intergenic

De novo

-

Yuen2017 G

ACTRT1

1-0558-003

chrX:
128428265-128428265

G

A

intergenic

De novo

-

Yuen2017 G

ACTRT1

1-0570-003

chrX:
127877557-127877557

C

T

intergenic

De novo

-

Yuen2017 G

ACTRT1

2-1522-003

chrX:
128565201-128565210

GTATATATAT

GTATAT

intergenic

De novo

-

Yuen2017 G

ACTRT1

5-0088-003

chrX:
127554600-127554600

T

C

intergenic

De novo

-

Yuen2017 G

ACTRT1

AU2293302

chrX:
128019279-128019279

T

C

intergenic

De novo

-

Yuen2017 G

ACTRT1

AU076705

chrX:
128074766-128074766

G

C

intergenic

De novo

-

Yuen2017 G

ACTRT1

2-1278-003

chrX:
127246047-127246047

G

A

intergenic

De novo

-

Yuen2017 G

ACTRT1

1-0675-003

chrX:
127500177-127500185

CATATATAT

CATATAT

intergenic

De novo

-

Yuen2017 G

ACTRT1

1-0556-003

chrX:
127779106-127779106

G

T

intergenic

De novo

-

Yuen2017 G

ACTRT1

7-0135-003

chrX:
127852108-127852108

T

C

intergenic

De novo

-

Yuen2017 G

ACTRT1

5-0106-003

chrX:
127549739-127549739

A

G

intergenic

De novo

-

Yuen2017 G

ACTRT1

AU050910

chrX:
127830072-127830081

CAAAAAAAAA

CAAAAAAAAAA

intergenic

De novo

-

Yuen2017 G

ACTRT1

7-0242-003

chrX:
128565203-128565224

ATATATATGTATATATGTATAT

ATATATATGTATAT

intergenic

De novo

-

Yuen2017 G

ACTRT1

AU051503

chrX:
127917650-127917650

C

A

intergenic

De novo

-

Yuen2017 G

ACTRT1

AU4336301

chrX:
127888571-127888583

TTTTTTTTTTTTG

T

intergenic

De novo

-

Yuen2017 G

ACTRT1

12061.p1

chrX:
128384304-128384318

TGCAGTATACACCAA

T

intergenic

Maternal

-

Wilfert2021 G

ACTRT1

7-0140-003

chrX:
127241663-127241666

TTCT

TT

intergenic

De novo

-

Yuen2017 G

ACTRT1

Li2017:20398

chrX:
127185353-127185353

A

ATT

exonic

Unknown

frameshift insertion

NM_138289

c.832_833insAA

p.M278fs

-

Li2017 T

ACTRT1

AU0540301

chrX:
128565824-128565840

CATGTATATATGTATAT

CATGTATAT

intergenic

De novo

-

Yuen2017 G

ACTRT1

A27

chrX:
127276860-127276860

G

T

intergenic

De novo

-

Wu2018 G

ACTRT1

2-1408-004

chrX:
127377277-127377277

T

C

intergenic

De novo

-

Yuen2017 G

ACTRT1

AU2075301

chrX:
127638233-127638233

G

A

intergenic

De novo

-

Yuen2017 G

ACTRT1

AU4032307

Complex Event; expand row to view variants

De novo

-

Yuen2017 G
Yuen2017 G

ACTRT1

2-1736-003

chrX:
128099036-128099053

TTTTTTATTTTTATTTTT

TTTTTTATTTTT

intergenic

De novo

-

Yuen2017 G

ACTRT1

AU3703302

chrX:
127500177-127500185

CATATATAT

CATATAT

intergenic

De novo

-

Yuen2017 G

ACTRT1

AU050704

chrX:
128428261-128428284

GAAGGAAGGAAGAAAGAAAGAAAG

GAAG

intergenic

De novo

-

Yuen2017 G

ACTRT1

Li2017:18452

chrX:
127185846-127185846

T

C

exonic

Unknown

nonsynonymous SNV

NM_138289

c.A340G

p.N114D

14.89

-

Li2017 T

ACTRT1

2-1725-003

chrX:
127500150-127500160

GTATATATATA

GTATATATA

intergenic

De novo

-

Yuen2017 G

ACTRT1

1-0294-003

chrX:
127886754-127886754

T

A

intergenic

De novo

-

Yuen2017 G

ACTRT1

2-1346-003

chrX:
128109681-128109681

T

A

intergenic

De novo

-

Yuen2017 G

ACTRT1

A3

chrX:
127185248-127185248

C

T

exonic

De novo

nonsynonymous SNV

NM_138289

c.G938A

p.R313K

17.22

-

Wu2018 G

ACTRT1

AU3729303

chrX:
128568853-128568853

T

C

intergenic

De novo

-

Yuen2017 G

ACTRT1

Li2017:7

chrX:
127185248-127185248

C

T

exonic

Unknown

nonsynonymous SNV

NM_138289

c.G938A

p.R313K

17.22

-

Li2017 T

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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