chr15:42652148:C>T Detail (hg19) (CAPN3)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr15:42,652,148-42,652,148 |
hg38 | chr15:42,359,950-42,359,950 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_173087.1:c.145C>T | NP_775110.1:p.Arg49Cys |
NM_000070.2:c.145C>T | NP_000061.1:p.Arg49Cys | |
NM_024344.1:c.145C>T | NP_077320.1:p.Arg49Cys |
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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2023-12-06 | criteria provided, multiple submitters, no conflicts | autosomal recessive limb-girdle muscular dystrophy type 2A |
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Detail |
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2020-03-01 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2023-01-06 | criteria provided, single submitter | autosomal recessive limb-girdle muscular dystrophy |
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Detail |
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2023-08-02 | 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.145C>T (p.Arg49Cys) AND Autosomal recessive limb-girdle muscular dystrophy type... | ClinVar | Detail |
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) AND not provided | ClinVar | Detail |
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) AND Autosomal recessive limb-girdle muscular dystrophy | ClinVar | Detail |
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) 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
- rs794726871 dbSNP
- Genome
- hg19
- Position
- chr15:42,652,148-42,652,148
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- 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))
- rs794726871
- 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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