chrX:31947864:T>C Detail (hg19) (DMD)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrX:31,947,864-31,947,864 |
| hg38 | chrX:31,929,747-31,929,747 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000109.3:c.6763-2A>G | |
| NM_004006.2:c.6763-2A>G | ||
| NM_004022.2:c.-618-2A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2021-12-20 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Likely pathogenic
|
2023-09-19 | criteria provided, single submitter | Duchenne muscular dystrophy |
germline
|
Detail |
|
Likely pathogenic
|
2021-10-17 | criteria provided, single submitter | Duchenne muscular dystrophy,dilated cardiomyopathy 3B,Becker muscular dystrophy |
unknown
|
Detail |
|
Likely pathogenic
|
2021-10-17 | criteria provided, single submitter | Duchenne muscular dystrophy,dilated cardiomyopathy 3B,Becker muscular dystrophy |
unknown
|
Detail |
|
Likely pathogenic
|
2021-10-17 | criteria provided, single submitter | Duchenne muscular dystrophy,dilated cardiomyopathy 3B,Becker muscular dystrophy |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.372 | Dmd-Associated Dilated Cardiomyopathy | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004006.3(DMD):c.6763-2A>G AND not provided | ClinVar | Detail |
| NM_004006.3(DMD):c.6763-2A>G AND Duchenne muscular dystrophy | ClinVar | Detail |
| NM_004006.3(DMD):c.6763-2A>G AND multiple conditions | ClinVar | Detail |
| NM_004006.3(DMD):c.6763-2A>G AND multiple conditions | ClinVar | Detail |
| NM_004006.3(DMD):c.6763-2A>G AND multiple conditions | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs398124033 dbSNP
- Genome
- hg19
- Position
- chrX:31,947,864-31,947,864
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser