NM_178152.2(DCX):c.184G>A (p.Asp62Asn) AND Lissencephaly, X-linked

Clinical significance:Pathogenic (Last evaluated: Jan 9, 1998)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000012355.16

Allele description [Variation Report for NM_178152.2(DCX):c.184G>A (p.Asp62Asn)]

NM_178152.2(DCX):c.184G>A (p.Asp62Asn)

Gene:
DCX:doublecortin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq23
Genomic location:
Preferred name:
NM_178152.2(DCX):c.184G>A (p.Asp62Asn)
HGVS:
  • NC_000023.11:g.111410215C>T
  • NG_011750.1:g.6964G>A
  • NM_178152.2:c.184G>A
  • NP_835365.1:p.Asp62Asn
  • NC_000023.10:g.110653443C>T
  • O43602:p.Asp62Asn
Protein change:
D62N; ASP62ASN
Links:
UniProtKB: O43602#VAR_007823; OMIM: 300121.0001; dbSNP: rs104894779
NCBI 1000 Genomes Browser:
rs104894779
Molecular consequence:
  • NM_178152.2:c.184G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lissencephaly, X-linked (LISX1)
Synonyms:
LISSENCEPHALY, X-LINKED, 1
Identifiers:
MedGen: C4551968; Orphanet: 2148; OMIM: 300067

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000032589OMIMno assertion criteria providedPathogenic
(Jan 9, 1998)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome.

des Portes V, Pinard JM, Billuart P, Vinet MC, Koulakoff A, CarriƩ A, Gelot A, Dupuis E, Motte J, Berwald-Netter Y, Catala M, Kahn A, Beldjord C, Chelly J.

Cell. 1998 Jan 9;92(1):51-61.

PubMed [citation]
PMID:
9489699

Details of each submission

From OMIM, SCV000032589.1

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

Description

In a mother with X-linked subcortical laminar heterotopia and her son with lissencephaly (300067), des Portes et al. (1998) identified a 599G-A transition in the DCX gene, resulting in an asp62-to-asn (D62N) substitution.

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

Last Updated: Jun 17, 2019

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