chr11:47333297:T>C Detail (hg38) (MYBPC3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:47,354,848-47,354,848 View the variant detail on this assembly version. |
| hg38 | chr11:47,333,297-47,333,297 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000256.3:c.3227A>G | NP_000247.2:p.Asp1076Gly |
| Ensemble | ENST00000399249.6:c.3227A>G | ENST00000399249.6:p.Asp1076Gly |
| ENST00000545968.6:c.3227A>G | ENST00000545968.6:p.Asp1076Gly |
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 |
|---|---|---|---|---|---|
Likely pathogenic
|
2014-09-29 | no assertion criteria provided | Primary dilated cardiomyopathy,Primary familial hypertrophic cardiomyopathy |
germline
|
Detail |
|
Likely pathogenic
|
2014-09-29 | no assertion criteria provided | Primary dilated cardiomyopathy,Primary familial hypertrophic cardiomyopathy |
germline
|
Detail |
|
Uncertain significance
|
2020-09-23 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Uncertain significance
|
2023-06-08 | criteria provided, multiple submitters, no conflicts | hypertrophic cardiomyopathy |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.252 | Cardiomyopathy, Dilated | NA | CLINVAR | Detail | |
| 0.247 | Cardiomyopathy, Hypertrophic, Familial | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000256.3(MYBPC3):c.3227A>G (p.Asp1076Gly) AND multiple conditions | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.3227A>G (p.Asp1076Gly) AND multiple conditions | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.3227A>G (p.Asp1076Gly) AND not provided | ClinVar | Detail |
| NM_000256.3(MYBPC3):c.3227A>G (p.Asp1076Gly) AND Hypertrophic cardiomyopathy | ClinVar | 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
- rs730880140 dbSNP
- Genome
- hg38
- Position
- chr11:47,333,297-47,333,297
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser