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NM_001356.5(DDX3X):c.443+3A>T AND Intellectual disability, X-linked 102

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:
RCV001837609.2

Allele description [Variation Report for NM_001356.5(DDX3X):c.443+3A>T]

NM_001356.5(DDX3X):c.443+3A>T

Gene:
DDX3X:DEAD-box helicase 3 X-linked [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.4
Genomic location:
Preferred name:
NM_001356.5(DDX3X):c.443+3A>T
HGVS:
  • NC_000023.11:g.41342656A>T
  • NG_012830.2:g.14259A>T
  • NM_001193416.3:c.443+3A>T
  • NM_001193417.3:c.395+3A>T
  • NM_001356.5:c.443+3A>TMANE SELECT
  • NM_001363819.1:c.-116+3A>T
  • NC_000023.10:g.41201909A>T
  • NM_001356.4:c.443+3A>T
Links:
dbSNP: rs2147350644
NCBI 1000 Genomes Browser:
rs2147350644
Molecular consequence:
  • NM_001193416.3:c.443+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001193417.3:c.395+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001356.5:c.443+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001363819.1:c.-116+3A>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Intellectual disability, X-linked 102 (MRXSSB)
Synonyms:
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE
Identifiers:
MONDO: MONDO:0010497; MedGen: C5393299; Orphanet: 457260; OMIM: 300958

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002098141GeneReviews
no classification provided
not providedgermlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.

Nicola P, Blackburn PR, Rasmussen KJ, Bertsch NL, Klee EW, Hasadsri L, Pichurin PN, Rankin J, Raymond FL; DDD Study., Clayton-Smith J.

Am J Med Genet A. 2019 Apr;179(4):570-578. doi: 10.1002/ajmg.a.61061. Epub 2019 Feb 7.

PubMed [citation]
PMID:
30734472

Details of each submission

From GeneReviews, SCV002098141.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Observed in affected males w/de novo occurrence [Wang et al 2018, Nicola et al 2019]

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

Last Updated: Dec 24, 2023