chrX:111401121:G>A Detail (hg38) (DCX)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

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

HGVS

DCX

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
	NM_001195553.1:c.574C>T	NP_001182482.1:p.Arg192Trp
	NM_178153.2:c.574C>T	NP_835366.1:p.Arg192Trp
Ensemble	ENST00000356220.8:c.574C>T	ENST00000356220.8:p.Arg192Trp
	ENST00000358070.10:c.754C>T	ENST00000358070.10:p.Arg252Trp
	ENST00000371993.7:c.574C>T	ENST00000371993.7:p.Arg192Trp
	ENST00000488120.2:c.574C>T	ENST00000488120.2:p.Arg192Trp
	ENST00000496551.2:c.754C>T	ENST00000496551.2:p.Arg252Trp
	ENST00000635795.1:c.574C>T	ENST00000635795.1:p.Arg192Trp
	ENST00000636035.2:c.574C>T	ENST00000636035.2:p.Arg192Trp
	ENST00000637453.1:c.574C>T	ENST00000637453.1:p.Arg192Trp
	ENST00000637570.1:c.574C>T	ENST00000637570.1:p.Arg192Trp
	ENST00000680476.1:c.574C>T	ENST00000680476.1: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
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Links

DCX

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

Descrption	Source	Links
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: hg38
Position: chrX:111,401,121-111,401,121
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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