chrX:111410188:C>A Detail (hg38) (DCX)

Information

Genome

Assembly Position
hg19 chrX:110,653,416-110,653,416 View the variant detail on this assembly version.
hg38 chrX:111,410,188-111,410,188

HGVS

Type Transcript Protein
RefSeq NM_000555.3:c.391G>T NP_000546.2:p.Ala131Ser
NM_178151.2:c.211G>T NP_835364.1:p.Ala71Ser
NM_178152.2:c.211G>T NP_835365.1:p.Ala71Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 300121 OMIM
HGNC 2714 HGNC
Ensembl ENSG00000077279 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2003-01-28 no assertion criteria provided Lissencephaly type 1 due to doublecortin gene mutation germline Detail
Pathogenic 2003-01-28 no assertion criteria provided Subcortical laminar heterotopia, X-linked germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.121 Lissencephaly and agenesis of corpus callosum NA CLINVAR Detail
0.364 X-Linked Lissencephaly NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001195553.2(DCX):c.211G>T (p.Ala71Ser) AND Lissencephaly type 1 due to doublecortin gene mutation ClinVar Detail
NM_001195553.2(DCX):c.211G>T (p.Ala71Ser) AND Subcortical laminar heterotopia, X-linked ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs104894786 dbSNP
Genome
hg38
Position
chrX:111,410,188-111,410,188
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser