chr3:8787263:G>A Detail (hg19) (CAV3, OXTR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:8,787,263-8,787,263 |
| hg38 | chr3:8,745,577-8,745,577 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001234.4:c.166G>A | NP_001225.1:p.Gly56Ser |
| NM_033337.2:c.166G>A | NP_203123.1:p.Gly56Ser | |
| Ensemble | ENST00000343849.3:c.166G>A | ENST00000343849.3:p.Gly56Ser |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:<0.001 |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Benign
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Uncertain significance
|
2005-01-01 | no assertion criteria provided | rippling muscle disease 2 |
germline
|
Detail |
|
Benign
|
2017-04-28 | criteria provided, multiple submitters, no conflicts | not specified |
germline
unknown
|
Detail |
|
Benign
|
2023-11-29 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Benign
|
2013-06-24 | criteria provided, single submitter | limb-girdle muscular dystrophy |
unknown
|
Detail |
|
Benign
|
2015-07-16 | criteria provided, single submitter |
germline
|
Detail | |
|
Likely benign
|
2016-06-14 | criteria provided, single submitter | Limb-Girdle Muscular Dystrophy, Dominant |
germline
|
Detail |
|
Likely benign
|
2019-05-28 | criteria provided, single submitter | long QT syndrome 1 |
unknown
|
Detail |
|
Benign
|
2024-01-31 | criteria provided, single submitter | long QT syndrome |
germline
|
Detail |
|
Likely benign
|
2017-04-27 | criteria provided, single submitter | Caveolinopathy |
germline
|
Detail |
|
Benign
|
2020-07-31 | criteria provided, single submitter | cardiomyopathy |
germline
|
Detail |
|
Likely benign
|
2022-04-18 | criteria provided, single submitter | Distal myopathy, Tateyama type,rippling muscle disease 2,long QT syndrome 9,hypertrophic cardiomyopathy 1 |
unknown
|
Detail |
|
Likely benign
|
2022-04-18 | criteria provided, single submitter | Distal myopathy, Tateyama type,rippling muscle disease 2,long QT syndrome 9,hypertrophic cardiomyopathy 1 |
unknown
|
Detail |
|
Likely benign
|
2022-04-18 | criteria provided, single submitter | Distal myopathy, Tateyama type,rippling muscle disease 2,long QT syndrome 9,hypertrophic cardiomyopathy 1 |
unknown
|
Detail |
|
Likely benign
|
2022-04-18 | criteria provided, single submitter | Distal myopathy, Tateyama type,rippling muscle disease 2,long QT syndrome 9,hypertrophic cardiomyopathy 1 |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.251 | Muscular Dystrophies, Limb-Girdle | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) AND Rippling muscle disease 2 | ClinVar | Detail |
| NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) AND not specified | ClinVar | Detail |
| NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) AND not provided | ClinVar | Detail |
| NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) AND Limb-girdle muscular dystrophy | ClinVar | Detail |
| NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) AND Cardiovascular phenotype | ClinVar | Detail |
| NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) AND Limb-Girdle Muscular Dystrophy, Dominant | ClinVar | Detail |
| NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) AND Long QT syndrome 1 | ClinVar | Detail |
| NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) AND Long QT syndrome | ClinVar | Detail |
| NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) AND Caveolinopathy | ClinVar | Detail |
| NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) AND Cardiomyopathy | ClinVar | Detail |
| NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) AND multiple conditions | ClinVar | Detail |
| NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) AND multiple conditions | ClinVar | Detail |
| NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) AND multiple conditions | ClinVar | Detail |
| NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) AND multiple conditions | 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
- rs72546667 dbSNP
- Genome
- hg19
- Position
- chr3:8,787,263-8,787,263
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 1209
- Mean of sample read depth (HGVD)
- 136.71
- Standard deviation of sample read depth (HGVD)
- 67.67
- Number of reference allele (HGVD)
- 2417
- Number of alternative allele (HGVD)
- 1
- Allele Frequency (HGVD)
- 4.1356492969396195E-4
- Gene Symbol (HGVD)
- CAV3
- Homozygous Counts in All Race (ExAC)
- 84
- East Asian Chromosome Counts (ExAC)
- 8644
- East Asian Allele Counts (ExAC)
- 5
- East Asian Heterozygous Counts (ExAC)
- 5
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 5.784359093012494E-4
- Chromosome Counts in All Race (ExAC)
- 120990
- Allele Counts in All Race (ExAC)
- 1298
- Heterozygous Counts in All Race (ExAC)
- 1130
- Allele Frequency in All Race (ExAC)
- 0.010728159352012562
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