chrX:110653443:C>T Detail (hg19) (DCX)

Information

Genome

Assembly Position
hg19 chrX:110,653,443-110,653,443
hg38 chrX:111,410,215-111,410,215 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000555.3:c.364G>A NP_000546.2:p.Asp122Asn
NM_178151.2:c.184G>A NP_835364.1:p.Asp62Asn
NM_178152.2:c.184G>A NP_835365.1:p.Asp62Asn
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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 Likely pathogenic 2022-03-11 criteria provided, multiple submitters, no conflicts 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
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.184G>A (p.Asp62Asn) AND Lissencephaly type 1 due to doublecortin gene mutation ClinVar Detail
NM_001195553.2(DCX):c.184G>A (p.Asp62Asn) 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
rs104894779 dbSNP
Genome
hg19
Position
chrX:110,653,443-110,653,443
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser