chrX:110653416:C>A Detail (hg19) (DCX)
Information
Genome
Assembly | Position |
---|---|
hg19 | chrX:110,653,416-110,653,416 |
hg38 | chrX:111,410,188-111,410,188 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000555.3:c.391G>T | NP_000546.2:p.Ala131Ser |
NM_178151.2:c.211G>T | NP_835364.1:p.Ala71Ser | |
NM_178152.2:c.211G>T | NP_835365.1:p.Ala71Ser |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2003-01-28 | no assertion criteria provided | Lissencephaly type 1 due to doublecortin gene mutation |
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Detail |
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2003-01-28 | no assertion criteria provided | Subcortical laminar heterotopia, X-linked |
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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 |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001195553.2(DCX):c.211G>T (p.Ala71Ser) AND Lissencephaly type 1 due to doublecortin gene mutation | ClinVar | Detail |
NM_001195553.2(DCX):c.211G>T (p.Ala71Ser) 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
- rs104894786 dbSNP
- Genome
- hg19
- Position
- chrX:110,653,416-110,653,416
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
Genome browser