chrX:110653443:C>T Detail (hg19) (DCX)
Information
Genome
Assembly | Position |
---|---|
hg19 | chrX:110,653,443-110,653,443 |
hg38 | chrX:111,410,215-111,410,215 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000555.3:c.364G>A | NP_000546.2:p.Asp122Asn |
NM_178151.2:c.184G>A | NP_835364.1:p.Asp62Asn | |
NM_178152.2:c.184G>A | NP_835365.1:p.Asp62Asn |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2022-03-11 | criteria provided, multiple submitters, no conflicts | Lissencephaly type 1 due to doublecortin gene mutation |
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Detail |
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1998-01-09 | 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.184G>A (p.Asp62Asn) AND Lissencephaly type 1 due to doublecortin gene mutation | ClinVar | Detail |
NM_001195553.2(DCX):c.184G>A (p.Asp62Asn) 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
- rs104894779 dbSNP
- Genome
- hg19
- Position
- chrX:110,653,443-110,653,443
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser