chr3:8787233:G>T Detail (hg19) (CAV3, OXTR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:8,787,233-8,787,233 |
| hg38 | chr3:8,745,547-8,745,547 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001234.4:c.136G>T | NP_001225.1:p.Ala46Ser |
| NM_033337.2:c.136G>T | NP_203123.1:p.Ala46Ser | |
| Ensemble | ENST00000343849.3:c.136G>T | ENST00000343849.3:p.Ala46Ser |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
not provided
|
2012-04-15 | no assertion provided | 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 | |
| 0.246 | Rippling muscle disease | Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers. | BeFree | 20229577 | Detail |
| 0.360 | Creatine phosphokinase serum increased | NA | CLINVAR | Detail | |
| 0.126 | rippling muscle disease 1 | Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers. | BeFree | 20229577 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_033337.3(CAV3):c.136G>T (p.Ala46Ser) AND not provided | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers. | 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
- rs116840789 dbSNP
- Genome
- hg19
- Position
- chr3:8,787,233-8,787,233
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
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