chrX:111401108:C>T Detail (hg38) (DCX)

Information

Genome

Assembly Position
hg19 chrX:110,644,336-110,644,336 View the variant detail on this assembly version.
hg38 chrX:111,401,108-111,401,108

HGVS

Type Transcript Protein
RefSeq NM_000555.3:c.767G>A NP_000546.2:p.Arg256His
NM_178151.2:c.587G>A NP_835364.1:p.Arg196His
NM_178152.2:c.587G>A NP_835365.1:p.Arg196His
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 tgv416146609 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 criteria provided, single submitter Lissencephaly type 1 due to doublecortin gene mutation germline Detail
Pathogenic 2001-07-24 no assertion criteria provided Subcortical laminar heterotopia, X-linked germline Detail
Pathogenic 2013-02-08 criteria provided, single submitter germline Detail
Pathogenic 2023-08-25 criteria provided, multiple submitters, no conflicts not provided germline Detail
Uncertain significance no assertion criteria provided germline Detail
Pathogenic 2022-06-09 criteria provided, single submitter Inborn genetic diseases 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
0.364 X-Linked Lissencephaly Incomplete penetrance with normal MRI in a woman with germline mutation of the D... UNIPROT 11468322 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001195553.2(DCX):c.587G>A (p.Arg196His) AND Lissencephaly type 1 due to doublecortin gene mutatio... ClinVar Detail
NM_001195553.2(DCX):c.587G>A (p.Arg196His) AND Subcortical laminar heterotopia, X-linked ClinVar Detail
NM_001195553.2(DCX):c.587G>A (p.Arg196His) AND Ectopic tissue ClinVar Detail
NM_001195553.2(DCX):c.587G>A (p.Arg196His) AND not provided ClinVar Detail
NM_001195553.2(DCX):c.587G>A (p.Arg196His) AND Abnormal cerebral morphology ClinVar Detail
NM_001195553.2(DCX):c.587G>A (p.Arg196His) AND Inborn genetic diseases ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene. 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
rs56030372 dbSNP
Genome
hg38
Position
chrX:111,401,108-111,401,108
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser