NM_178151.2(DCX):c.167G>C (p.Arg56Pro) AND Heterotopia

Clinical significance:Likely pathogenic (Last evaluated: Apr 2, 2014)

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000145812.1

Allele description

NM_178151.2(DCX):c.167G>C (p.Arg56Pro)

Gene:
DCX:doublecortin [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq23
Genomic location:
Preferred name:
NM_178151.2(DCX):c.167G>C (p.Arg56Pro)
HGVS:
  • NC_000023.11:g.111410232C>G
  • NG_011750.1:g.6947G>C
  • NM_178151.2:c.167G>C
  • NM_178152.2:c.167G>C
  • NP_835364.1:p.Arg56Pro
  • NP_835365.1:p.Arg56Pro
  • NC_000023.10:g.110653460C>G
Protein change:
R56P
Molecular consequence:
  • NM_178152.2:c.167G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Heterotopia
Synonyms:
Heterotopias; Abnormality of neuronal migration
Identifiers:
MedGen: CN002072; Human Phenotype Ontology: HP:0002282

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000192949Genetic Services Laboratory, University of Chicagoclassified by single submitterLikely pathogenic
(Apr 2, 2014)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000192949.1

#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: Dec 7, 2014