NM_139058.3(ARX):c.1552del (p.Ala518fs) AND Intellectual disability, X-linked, with or without seizures, arx-related

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 8, 2002
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:: RCV002281622.1

Allele description [Variation Report for NM_139058.3(ARX):c.1552del (p.Ala518fs)]

NM_139058.3(ARX):c.1552del (p.Ala518fs)

Gene:

ARX:aristaless related homeobox [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xp21.3

Genomic location:

Preferred name:

NM_139058.3(ARX):c.1552del (p.Ala518fs)

HGVS:

NC_000023.11:g.25004808del
NG_008281.1:g.16142del
NM_139058.3:c.1552delMANE SELECT
NP_620689.1:p.Ala518fs
NC_000023.10:g.25022925del
NM_139058.2:c.1552delG

Protein change:

A518fs

Molecular consequence:

NM_139058.3:c.1552del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Intellectual disability, X-linked, with or without seizures, arx-related (XLID29)
Synonyms:: MENTAL RETARDATION, X-LINKED 29; MENTAL RETARDATION, X-LINKED 32; MENTAL RETARDATION, X-LINKED 33; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010317; MedGen: C0796244; Orphanet: 777; OMIM: 300419

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SKP1 S-phase kinase associated protein 1 [Homo sapiens]
SKP1 S-phase kinase associated protein 1 [Homo sapiens]
Gene ID:6500

Gene
Gene Links for GEO Profiles (Select 81250668) (1)
Gene
txid171549[orgn] (1324)
Genome

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002570065	Center of Excellence for Medical Genomics, Chulalongkorn University	no assertion criteria provided	Likely pathogenic (Sep 8, 2002)	maternal	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002570065

Center of Excellence for Medical Genomics, Chulalongkorn University

no assertion criteria provided

Likely pathogenic
(Sep 8, 2002)

maternal

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Center of Excellence for Medical Genomics, Chulalongkorn University, SCV002570065.1

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

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

Last Updated: Aug 5, 2023

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