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NM_139058.3(ARX):c.441_455dup (p.Ala151_Ala155dup) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV001009556.1

Allele description [Variation Report for NM_139058.3(ARX):c.441_455dup (p.Ala151_Ala155dup)]

NM_139058.3(ARX):c.441_455dup (p.Ala151_Ala155dup)

Genes:
LOC109610631:aristaless related homeobox polyalanine expansion region [Gene]
ARX:aristaless related homeobox [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xp21.3
Genomic location:
Preferred name:
NM_139058.3(ARX):c.441_455dup (p.Ala151_Ala155dup)
HGVS:
  • NC_000023.11:g.25013548_25013562dup
  • NG_008281.1:g.7395_7409dup
  • NG_052655.1:g.119_133dup
  • NM_139058.3:c.441_455dupMANE SELECT
  • NP_620689.1:p.Ala151_Ala155dup
  • NC_000023.10:g.25031656_25031657insGCCGCGGCCGCGGCT
  • NC_000023.10:g.25031665_25031679dup
  • NM_139058.2:c.441_455dup
  • NM_139058.2:c.441_455dupAGCCGCGGCCGCGGC
Links:
dbSNP: rs750585274
NCBI 1000 Genomes Browser:
rs750585274
Molecular consequence:
  • NM_139058.3:c.441_455dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:
Developmental and epileptic encephalopathy, 1 (DEE1)
Synonyms:
INFANTILE SPASM SYNDROME, X-LINKED 1; X-linked infantile spasms; West's syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010632; MedGen: C3463992; OMIM: 308350
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
Name:
Corpus callosum agenesis-abnormal genitalia syndrome
Synonyms:
Proud Levine Carpenter syndrome; New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum; ACC with abnormal genitalia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010224; MedGen: C0796124; Orphanet: 2508; OMIM: 300004
Name:
Partington syndrome (PRTS)
Synonyms:
MENTAL RETARDATION, X-LINKED 36; Partington X-linked mental retardation syndrome; Mental retardation, X-linked, syndromic 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010654; MedGen: C0796250; Orphanet: 94083; OMIM: 309510

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001169654GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies, SCV001169654.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 09-22-2017 by GTR ID 26957. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect facilitates ClinVar submission from the Association for Creatine Deficiencies registry and does not attempt to reinterpret the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023