chrX:31147520:T>C Detail (hg38) (DMD)
Information
Genome
Assembly | Position |
---|---|
hg19 | chrX:31,165,637-31,165,637 View the variant detail on this assembly version. |
hg38 | chrX:31,147,520-31,147,520 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_004014.2:c.2409-2A>G | |
NM_000109.3:c.10554-2A>G | ||
NM_004006.2:c.10554-2A>G |
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
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.10554-2A>G AND not provided | ClinVar | Detail |
NM_004006.3(DMD):c.10554-2A>G AND Duchenne muscular dystrophy | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs794727890 dbSNP
- Genome
- hg38
- Position
- chrX:31,147,520-31,147,520
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser