chr15:42702844:G>A Detail (hg19) (CAPN3)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr15:42,702,844-42,702,844 |
hg38 | chr15:42,410,646-42,410,646 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000070.2:c.2243G>A | NP_000061.1:p.Arg748Gln |
NM_173090.1:c.248G>A | NP_775113.1:p.Arg83Gln | |
NM_173087.1:c.1967G>A | NP_775110.1:p.Arg656Gln |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:<0.001 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:[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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2023-12-07 | criteria provided, multiple submitters, no conflicts | autosomal recessive limb-girdle muscular dystrophy type 2A |
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Detail |
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2021-10-01 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2021-07-10 | criteria provided, single submitter |
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Detail | |
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2023-09-30 | 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.2243G>A (p.Arg748Gln) AND Autosomal recessive limb-girdle muscular dystrophy ty... | ClinVar | Detail |
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) AND not provided | ClinVar | Detail |
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) AND Abnormality of the musculature | ClinVar | Detail |
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) 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
- rs587780290 dbSNP
- Genome
- hg19
- Position
- chr15:42,702,844-42,702,844
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs587780290
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0001
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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