chrX:33211281:C>A Detail (hg38) (DMD)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrX:33,229,398-33,229,398 View the variant detail on this assembly version. |
| hg38 | chrX:33,211,281-33,211,281 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000109.3:c.31+1G>T | |
| NM_004006.2:c.31+1G>T | ||
| Ensemble | ENST00000288447.9:c.7+127978G>T |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| 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 |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000074
(TMGS000150) |
Kenjiro Kosaki Nishino Ichizo |
Keio University National Center of Neurology and Psychiatry |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2022-12-16 | criteria provided, single submitter | dilated cardiomyopathy 3B |
germline
|
Detail |
|
Pathogenic
|
2019-05-31 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2022-02-06 | criteria provided, single submitter | Duchenne muscular dystrophy |
germline
|
Detail |
|
Pathogenic
|
2017-03-16 | no assertion criteria provided | Duchenne muscular dystrophy,cardiomyopathy,Dystrophin deficiency,Becker muscular dystrophy |
germline
|
Detail |
|
Pathogenic
|
2017-03-16 | no assertion criteria provided | Duchenne muscular dystrophy,cardiomyopathy,Dystrophin deficiency,Becker muscular dystrophy |
germline
|
Detail |
|
Pathogenic
|
2017-03-16 | no assertion criteria provided | Duchenne muscular dystrophy,cardiomyopathy,Dystrophin deficiency,Becker muscular dystrophy |
germline
|
Detail |
|
Pathogenic
|
2017-03-16 | no assertion criteria provided | Duchenne muscular dystrophy,cardiomyopathy,Dystrophin deficiency,Becker muscular dystrophy |
germline
|
Detail |
|
Pathogenic
|
2019-08-16 | criteria provided, single submitter |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.730 | Muscular Dystrophy, Duchenne | NA | CLINVAR | Detail | |
| 0.372 | Dmd-Associated Dilated Cardiomyopathy | NA | CLINVAR | Detail | |
| 0.498 | Becker muscular dystrophy | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004006.3(DMD):c.31+1G>T AND Dilated cardiomyopathy 3B | ClinVar | Detail |
| NM_004006.3(DMD):c.31+1G>T AND not provided | ClinVar | Detail |
| NM_004006.3(DMD):c.31+1G>T AND Duchenne muscular dystrophy | ClinVar | Detail |
| NM_004006.3(DMD):c.31+1G>T AND multiple conditions | ClinVar | Detail |
| NM_004006.3(DMD):c.31+1G>T AND multiple conditions | ClinVar | Detail |
| NM_004006.3(DMD):c.31+1G>T AND multiple conditions | ClinVar | Detail |
| NM_004006.3(DMD):c.31+1G>T AND multiple conditions | ClinVar | Detail |
| NM_004006.3(DMD):c.31+1G>T AND Cardiovascular phenotype | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs398123923 dbSNP
- Genome
- hg38
- Position
- chrX:33,211,281-33,211,281
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
Genome browser