chrX:111401087:G>T Detail (hg38) (DCX)
Information
Genome
Assembly | Position |
---|---|
hg19 | chrX:110,644,315-110,644,315 View the variant detail on this assembly version. |
hg38 | chrX:111,401,087-111,401,087 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000555.3:c.788C>A | NP_000546.2:p.Thr263Lys |
NM_178151.2:c.608C>A | NP_835364.1:p.Thr203Lys | |
NM_178152.2:c.608C>A | NP_835365.1:p.Thr203Lys |
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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2013-02-08 | criteria provided, single submitter |
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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.608C>A (p.Thr203Lys) AND Ectopic tissue | 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
- rs104894782 dbSNP
- Genome
- hg38
- Position
- chrX:111,401,087-111,401,087
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
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