chrX:110576306:G>A Detail (hg19) (DCX)
Information
Genome
Assembly | Position |
---|---|
hg19 | chrX:110,576,306-110,576,306 |
hg38 | chrX:111,333,078-111,333,078 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000555.3:c.961C>T | NP_000546.2:p.Gln321Ter |
NM_178151.2:c.781C>T | NP_835364.1:p.Gln261Ter | |
NM_178152.2:c.781C>T | NP_835365.1:p.Gln261Ter |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.364 | X-Linked Lissencephaly | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001195553.2(DCX):c.781C>T (p.Gln261Ter) AND Ectopic tissue | ClinVar | Detail |
NM_001195553.2(DCX):c.781C>T (p.Gln261Ter) AND not provided | ClinVar | 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
- rs587783588 dbSNP
- Genome
- hg19
- Position
- chrX:110,576,306-110,576,306
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser