chr3:8787387:TCT> Detail (hg19) (CAV3, OXTR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:8,787,387-8,787,389 |
| hg38 | chr3:8,745,701-8,745,703 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001234.4:c.290_292delTCT | NP_001225.1:p.Phe97del |
| NM_033337.2:c.290_292delTCT | NP_203123.1:p.Phe97del | |
| Ensemble | ENST00000343849.3:c.290_292delTCT | ENST00000343849.3:p.Phe97del |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2005-01-01 | no assertion criteria provided |
germline
|
Detail | |
|
Pathogenic
|
2005-01-01 | no assertion criteria provided | rippling muscle disease 2 |
germline
|
Detail |
|
Uncertain significance
|
2015-08-26 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | RIPPLING MUSCLE DISEASE 2 (disorder) | NA | CLINVAR | Detail | |
| 0.560 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C | NA | CLINVAR | Detail | |
| 0.360 | Creatine phosphokinase serum increased | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_033337.3(CAV3):c.290_292del (p.Phe97del) AND Elevated circulating creatine kinase concentration | ClinVar | Detail |
| NM_033337.3(CAV3):c.290_292del (p.Phe97del) AND Rippling muscle disease 2 | ClinVar | Detail |
| NM_033337.3(CAV3):c.290_292del (p.Phe97del) AND not provided | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | 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
- rs199476335 dbSNP
- Genome
- hg19
- Position
- chr3:8,787,387-8,787,389
- Variant Type
- snv
- Reference Allele
- TCT
- Alternative Allele
- -
Genome browser