GRCh38/hg38 Xq28(chrX:156006941-156020513)x4 AND See cases

Germline classification:: Benign (1 submission)
Last evaluated:: Nov 30, 2010
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000134526.3

Allele description [Variation Report for GRCh38/hg38 Xq28(chrX:156006941-156020513)x4]

GRCh38/hg38 Xq28(chrX:156006941-156020513)x4

Genes:

WASIR1:WASH and IL9R antisense RNA 1 [Gene - HGNC]
IL9R:interleukin 9 receptor [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

GRCh38/hg38 Xq28(chrX:156006941-156020513)x4

HGVS:

NC_000023.11:g.(?_156006941)_(156020513_?)dup
NC_000023.10:g.(?_155236606)_(155250178_?)dup

Links:

dbVar: nssv583698; dbVar: nsv497611

Observations:

Condition(s)

Name:: See cases [See the Variation display for details]
Identifiers:

Recent activity

Clear Turn Off Turn On

RecName: Full=Reticulon-4 receptor-like 2; AltName: Full=Nogo receptor-like 3; A...
RecName: Full=Reticulon-4 receptor-like 2; AltName: Full=Nogo receptor-like 3; AltName: Full=Nogo-66 receptor homolog 1; AltName: Full=Nogo-66 receptor-related protein 2; Short=NgR2; Flags: Precursor
gi|81911952|sp|Q7M6Z0.1|R4RL2_MOUSE

Protein
Solanine
Solanine
A mixture of alpha-chaconine and alpha-solanine, found in SOLANACEAE plants.<br/>

MeSH

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000174085	GeneDx	no assertion criteria provided	Benign (Nov 30, 2010)	not provided	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000174085

GeneDx

no assertion criteria provided

Benign
(Nov 30, 2010)

not provided

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000174085.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine