chr15:42680032:T> Detail (hg19) (CAPN3)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr15:42,680,032-42,680,032 |
hg38 | chr15:42,387,834-42,387,834 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_173087.1:c.580delT | NP_775110.1:p.Ser194ProfsTer26 |
NM_024344.1:c.580delT | NP_077320.1:p.Ser194ProfsTer26 | |
NM_000070.2:c.580delT | NP_000061.1:p.Ser194ProfsTer26 |
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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2022-09-10 | criteria provided, multiple submitters, no conflicts | autosomal recessive limb-girdle muscular dystrophy type 2A |
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Detail |
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2013-10-04 | criteria provided, single submitter | not provided |
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Detail |
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2023-06-07 | criteria provided, single submitter | Muscular dystrophy, limb-girdle, autosomal dominant 4 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.573 | Limb-girdle muscular dystrophy type 2A | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000070.3(CAPN3):c.580del (p.Ser194fs) AND Autosomal recessive limb-girdle muscular dystrophy type... | ClinVar | Detail |
NM_000070.3(CAPN3):c.580del (p.Ser194fs) AND not provided | ClinVar | Detail |
NM_000070.3(CAPN3):c.580del (p.Ser194fs) AND Muscular dystrophy, limb-girdle, autosomal dominant 4 | ClinVar | 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
- rs398123149 dbSNP
- Genome
- hg19
- Position
- chr15:42,680,032-42,680,032
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- -
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