chr15:42359938:G>A Detail (hg38) (CAPN3)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr15:42,652,136-42,652,136 View the variant detail on this assembly version. |
hg38 | chr15:42,359,938-42,359,938 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_173087.1:c.133G>A | NP_775110.1:p.Ala45Thr |
NM_024344.1:c.133G>A | NP_077320.1:p.Ala45Thr | |
NM_000070.2:c.133G>A | NP_000061.1:p.Ala45Thr |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
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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2023-12-26 | criteria provided, multiple submitters, no conflicts | autosomal recessive limb-girdle muscular dystrophy type 2A |
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Detail |
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2018-10-31 | criteria provided, single submitter | autosomal recessive limb-girdle muscular dystrophy type 2A,Muscular dystrophy, limb-girdle, autosomal dominant 4 |
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Detail |
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2018-10-31 | criteria provided, single submitter | autosomal recessive limb-girdle muscular dystrophy type 2A,Muscular dystrophy, limb-girdle, autosomal dominant 4 |
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Detail |
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2020-03-25 | criteria provided, single submitter | not provided |
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Detail |
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2023-05-08 | criteria provided, single submitter | autosomal recessive limb-girdle muscular dystrophy |
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Detail |
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2023-05-03 | 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.133G>A (p.Ala45Thr) AND Autosomal recessive limb-girdle muscular dystrophy type... | ClinVar | Detail |
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr) AND multiple conditions | ClinVar | Detail |
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr) AND multiple conditions | ClinVar | Detail |
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr) AND not provided | ClinVar | Detail |
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr) AND Autosomal recessive limb-girdle muscular dystrophy | ClinVar | Detail |
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr) 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 |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs774048743 dbSNP
- Genome
- hg38
- Position
- chr15:42,359,938-42,359,938
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121370
- Allele Counts in All Race (ExAC)
- 2
- Heterozygous Counts in All Race (ExAC)
- 2
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.647853670594051E-5
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