chrX:110644336:C>T Detail (hg19) (DCX)
Information
Genome
Assembly | Position |
---|---|
hg19 | chrX:110,644,336-110,644,336 |
hg38 | chrX:111,401,108-111,401,108 View the variant detail on this assembly version. |
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 |
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Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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other |
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MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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criteria provided, single submitter | Lissencephaly type 1 due to doublecortin gene mutation |
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Detail | |
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2001-07-24 | no assertion criteria provided | Subcortical laminar heterotopia, X-linked |
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Detail |
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2013-02-08 | criteria provided, single submitter |
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Detail | |
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2023-08-25 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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no assertion criteria provided |
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Detail | ||
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2022-06-09 | criteria provided, single submitter | Inborn genetic diseases |
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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
Descrption | Source | Links |
---|---|---|
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
- hg19
- Position
- chrX:110,644,336-110,644,336
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
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