Variant Results

or

or

Results for "ANOS1"

Variant Events: 17

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

ANOS1

1-0406-003

chrX:
8624535-8624535

C

T

intronic

De novo

-

-

Yuen2017 G

ANOS1

AU066104

chrX:
8755392-8755399

AAAATAAA

AAAATAAATAAA

intergenic

De novo

-

-

Yuen2017 G

ANOS1

AU2756306

chrX:
8731677-8731677

T

C

intergenic

De novo

-

-

Yuen2017 G

ANOS1

1-0303-003

chrX:
8617036-8617036

C

T

intronic

De novo

-

-

Yuen2017 G

ANOS1

7-0141-003

chrX:
8693551-8693589

TTATATACAGATATATATATATATACAGATATATATATA

TTATATACAGATATATATATA

intronic

De novo

-

-

Yuen2017 G

ANOS1

2-1430-003

chrX:
8544520-8544529

CACACACACA

CACACACACATACACACACA

intronic

De novo

-

-

Yuen2017 G

ANOS1

AU2023302

chrX:
8592071-8592075

TTTTG

T

intronic

De novo

-

-

Yuen2017 G

ANOS1

74-0355

chrX:
8653618-8653618

G

A

intronic

Unknown

-

-

Michaelson2012 G

ANOS1

2-1303-003

chrX:
8522080-8522080

G

A

exonic

De novo

stopgain

NM_000216

c.C1267T

p.R423X

35.0

-

Jiang2013 G
Yuen2017 G
Zhou2022 GE

ANOS1

AU4089302

chrX:
8565696-8565699

TCCC

TC

intronic

De novo

-

-

Yuen2017 G

ANOS1

AU4462302

chrX:
8693692-8693705

GATATATATATATA

GATATATATATA

intronic

De novo

-

-

Yuen2017 G

ANOS1

Uddin2014:2

chrX:
8522080-8522080

G

T

exonic

De novo

synonymous SNV

NM_000216

c.C1267A

p.R423R

-

-

Uddin2014 E

ANOS1

2-1368-003

chrX:
8615908-8615908

C

T

intronic

De novo

-

-

Yuen2017 G

ANOS1

3-0185-000

chrX:
8755582-8755582

C

G

intergenic

De novo

-

-

Yuen2017 G

ANOS1

2-1152-003

chrX:
8601730-8601730

C

T

intronic

De novo

-

-

Yuen2017 G

ANOS1

14496.p1

chrX:
8521231-8521231

C

T

intronic

De novo

-

-

Turner2016 G

ANOS1

09C99829

chrX:
8522080-8522080

G

A

exonic

De novo

stopgain

NM_000216

c.C1267T

p.R423X

35.0

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

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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