chrX:110644349:G>A Detail (hg19) (DCX)

Information

Genome

Assembly Position
hg19 chrX:110,644,349-110,644,349
hg38 chrX:111,401,121-111,401,121 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000555.3:c.754C>T NP_000546.2:p.Arg252Trp
NM_178151.2:c.574C>T NP_835364.1:p.Arg192Trp
NM_178152.2:c.574C>T NP_835365.1:p.Arg192Trp
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000137)
Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1998-01-09 no assertion criteria provided Lissencephaly type 1 due to doublecortin gene mutation germline Detail
Pathogenic 1998-01-09 no assertion criteria provided Subcortical laminar heterotopia, X-linked germline Detail
Pathogenic 2013-02-08 criteria provided, single submitter germline Detail
Pathogenic 2023-09-13 criteria provided, single submitter not provided 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.574C>T (p.Arg192Trp) AND Lissencephaly type 1 due to doublecortin gene mutatio... ClinVar Detail
NM_001195553.2(DCX):c.574C>T (p.Arg192Trp) AND Subcortical laminar heterotopia, X-linked ClinVar Detail
NM_001195553.2(DCX):c.574C>T (p.Arg192Trp) AND Ectopic tissue ClinVar Detail
NM_001195553.2(DCX):c.574C>T (p.Arg192Trp) AND not provided 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
rs104894780 dbSNP
Genome
hg19
Position
chrX:110,644,349-110,644,349
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser