chr14:23893316:G>C Detail (hg19) (MYH7)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:23,893,316-23,893,316 |
| hg38 | chr14:23,424,107-23,424,107 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000257.3:c.2722C>G | NP_000248.2:p.Leu908Val |
| Ensemble | ENST00000713769.1:c.2722C>G | ENST00000713769.1:p.Leu908Val |
| ENST00000355349.4:c.2722C>G | ENST00000355349.4:p.Leu908Val |
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 |
|---|---|---|---|---|---|
Pathogenic
|
2017-03-10 | criteria provided, single submitter | hypertrophic cardiomyopathy 1 |
germline
|
Detail |
|
Pathogenic
|
2021-07-12 | criteria provided, multiple submitters, no conflicts | Primary familial hypertrophic cardiomyopathy |
germline
|
Detail |
|
Pathogenic
|
2022-02-17 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2022-04-19 | criteria provided, single submitter |
germline
|
Detail | |
|
Pathogenic
|
2016-12-15 | reviewed by expert panel | hypertrophic cardiomyopathy |
germline
|
Detail |
|
Pathogenic
|
2023-03-08 | criteria provided, multiple submitters, no conflicts | cardiomyopathy |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.360 | Cardiomyopathy, Familial Hypertrophic, 1 (disorder) | NA | CLINVAR | Detail | |
| 0.252 | Cardiomyopathy, Hypertrophic, Familial | NA | CLINVAR | Detail | |
| 0.163 | Cardiomyopathies | A deletion variant (p.L232-R238del) was present in 3 unrelated HCM probands, but... | BeFree | 21642240 | Detail |
| 0.054 | hypertrophic cardiomyopathy | Genotype-phenotype correlative studies have implicated 8 particular mutations th... | BeFree | 12473556 | Detail |
| 0.156 | hypertrophic cardiomyopathy | Genotype-phenotype correlative studies have implicated 8 particular mutations th... | BeFree | 12473556 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000257.4(MYH7):c.2722C>G (p.Leu908Val) AND Hypertrophic cardiomyopathy 1 | ClinVar | Detail |
| NM_000257.4(MYH7):c.2722C>G (p.Leu908Val) AND Primary familial hypertrophic cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.2722C>G (p.Leu908Val) AND not provided | ClinVar | Detail |
| NM_000257.4(MYH7):c.2722C>G (p.Leu908Val) AND Cardiovascular phenotype | ClinVar | Detail |
| NM_000257.4(MYH7):c.2722C>G (p.Leu908Val) AND Hypertrophic cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.2722C>G (p.Leu908Val) AND Cardiomyopathy | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A deletion variant (p.L232-R238del) was present in 3 unrelated HCM probands, but it did not segregat... | DisGeNET | Detail |
| Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophi... | DisGeNET | Detail |
| Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophi... | 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
- rs121913631 dbSNP
- Genome
- hg19
- Position
- chr14:23,893,316-23,893,316
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
Genome browser