NM_178152.2(DCX):c.211G>T (p.Ala71Ser)

Variation ID: Help
11610
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jan 28, 2003
Number of submission(s):
2
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_178152.2(DCX):c.211G>T (p.Ala71Ser)

Allele ID:
26649
Variant type:
single nucleotide variant
Cytogenetic location:
Xq23
Genomic location:
  • ChrX: 111410188 (on Assembly GRCh38)
  • ChrX: 110653416 (on Assembly GRCh37)
Protein change:
A71S
HGVS:
  • NG_011750.1:g.6991G>T
  • NM_178152.2:c.211G>T
  • NP_835365.1:p.Ala71Ser
  • NC_000023.11:g.111410188C>A (GRCh38)
  • NC_000023.10:g.110653416C>A (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs104894786
Molecular consequence:
NM_178152.2:c.211G>T: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

NM_178152.2(DCX):c.211G>T (p.Ala71Ser)

GRCh37 ChrX:110653416
Called variantsPotential variants
Sample countno data0 of 40842

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Jan 28, 2003)
no assertion criteria providedliterature onlygermlineOMIMSCV000032609.1
Pathogenic
(Jan 28, 2003)
no assertion criteria providedliterature only
  • Subcortical laminar heterotopia, X-linked[MedGen]
germlineOMIMSCV000032610.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Dec 6, 2016