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NM_001195553.2(DCX):c.280A>G (p.Asn94Asp) AND Lissencephaly type 1 due to doublecortin gene mutation

Germline classification:
Likely pathogenic (1 submission)
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:
RCV001542722.3

Allele description [Variation Report for NM_001195553.2(DCX):c.280A>G (p.Asn94Asp)]

NM_001195553.2(DCX):c.280A>G (p.Asn94Asp)

Gene:
DCX:doublecortin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq23
Genomic location:
Preferred name:
NM_001195553.2(DCX):c.280A>G (p.Asn94Asp)
HGVS:
  • NC_000023.11:g.111410119T>C
  • NG_011750.1:g.7060A>G
  • NM_000555.3:c.523A>G
  • NM_001195553.2:c.280A>GMANE SELECT
  • NM_001369370.1:c.280A>G
  • NM_001369371.1:c.280A>G
  • NM_001369372.1:c.280A>G
  • NM_001369373.1:c.280A>G
  • NM_001369374.1:c.280A>G
  • NM_178151.3:c.280A>G
  • NM_178152.3:c.280A>G
  • NM_178153.3:c.280A>G
  • NP_000546.2:p.Asn175Asp
  • NP_001182482.1:p.Asn94Asp
  • NP_001356299.1:p.Asn94Asp
  • NP_001356300.1:p.Asn94Asp
  • NP_001356301.1:p.Asn94Asp
  • NP_001356302.1:p.Asn94Asp
  • NP_001356303.1:p.Asn94Asp
  • NP_835364.1:p.Asn94Asp
  • NP_835364.1:p.Asn94Asp
  • NP_835365.1:p.Asn94Asp
  • NP_835366.1:p.Asn94Asp
  • NC_000023.10:g.110653347T>C
  • NM_178151.2:c.280A>G
Protein change:
N175D
Links:
dbSNP: rs797045512
NCBI 1000 Genomes Browser:
rs797045512
Molecular consequence:
  • NM_000555.3:c.523A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195553.2:c.280A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369370.1:c.280A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369371.1:c.280A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369372.1:c.280A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369373.1:c.280A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369374.1:c.280A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_178151.3:c.280A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_178152.3:c.280A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_178153.3:c.280A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lissencephaly type 1 due to doublecortin gene mutation
Synonyms:
LISSENCEPHALY, X-LINKED, 1; Lissencephaly and agenesis of corpus callosum
Identifiers:
MONDO: MONDO:0010239; MedGen: C4551968; Orphanet: 2148; OMIM: 300067

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001760501Genomics England Pilot Project, Genomics England
no assertion criteria provided

(ACGS Guidelines, 2016)		Likely pathogenicgermlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Genomics England Pilot Project, Genomics England, SCV001760501.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 26, 2024