chr3:52486233:C>T Detail (hg19) (TNNC1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:52,486,233-52,486,233 |
| hg38 | chr3:52,452,217-52,452,217 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_003280.2:c.91G>A | NP_003271.1:p.Ala31Thr |
| Ensemble | ENST00000232975.8:c.91G>A | ENST00000232975.8:p.Ala31Thr |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Conflicting interpretations of pathogenicity
|
2022-01-06 | criteria provided, conflicting interpretations | not provided |
germline
|
Detail |
Uncertain significance
|
2022-09-04 | criteria provided, single submitter | hypertrophic cardiomyopathy 13,dilated cardiomyopathy 1Z |
germline
|
Detail |
|
Uncertain significance
|
2022-09-04 | criteria provided, single submitter | hypertrophic cardiomyopathy 13,dilated cardiomyopathy 1Z |
germline
|
Detail |
|
Uncertain significance
|
2022-01-03 | criteria provided, single submitter | hypertrophic cardiomyopathy 13 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.360 | Cardiomyopathy, Familial Hypertrophic, 13 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_003280.3(TNNC1):c.91G>A (p.Ala31Thr) AND not provided | ClinVar | Detail |
| NM_003280.3(TNNC1):c.91G>A (p.Ala31Thr) AND multiple conditions | ClinVar | Detail |
| NM_003280.3(TNNC1):c.91G>A (p.Ala31Thr) AND multiple conditions | ClinVar | Detail |
| NM_003280.3(TNNC1):c.91G>A (p.Ala31Thr) AND Hypertrophic cardiomyopathy 13 | 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
- rs397514616 dbSNP
- Genome
- hg19
- Position
- chr3:52,486,233-52,486,233
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser