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NM_139058.3(ARX):c.1561G>A (p.Ala521Thr) AND Intellectual disability

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 1, 2018
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:
RCV001249486.4

Allele description [Variation Report for NM_139058.3(ARX):c.1561G>A (p.Ala521Thr)]

NM_139058.3(ARX):c.1561G>A (p.Ala521Thr)

Gene:
ARX:aristaless related homeobox [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.3
Genomic location:
Preferred name:
NM_139058.3(ARX):c.1561G>A (p.Ala521Thr)
HGVS:
  • NC_000023.11:g.25004798C>T
  • NG_008281.1:g.16151G>A
  • NM_139058.3:c.1561G>AMANE SELECT
  • NP_620689.1:p.Ala521Thr
  • NC_000023.10:g.25022915C>T
  • NM_139058.2:c.1561G>A
  • Q96QS3:p.Ala521Thr
Protein change:
A521T
Links:
UniProtKB: Q96QS3#VAR_033263; dbSNP: rs746120093
NCBI 1000 Genomes Browser:
rs746120093
Molecular consequence:
  • NM_139058.3:c.1561G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Intellectual disability
Synonyms:
Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:
MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001423476Diagnostic Laboratory, Strasbourg University Hospital
no assertion criteria provided
Uncertain significance
(Dec 1, 2018) 		maternalclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot provided1yesclinical testing

Details of each submission

From Diagnostic Laboratory, Strasbourg University Hospital, SCV001423476.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedyesclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyes1bloodnot provided1not providednot providednot provided

Last Updated: Oct 26, 2024