chr14:23425403:C>G Detail (hg38) (MYH7, LOC126861898)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:23,894,612-23,894,612 View the variant detail on this assembly version. |
| hg38 | chr14:23,425,403-23,425,403 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000257.3:c.2302G>C | NP_000248.2:p.Gly768Arg |
| Ensemble | ENST00000355349.4:c.2302G>C | ENST00000355349.4:p.Gly768Arg |
| ENST00000713768.1:c.2302G>C | ENST00000713768.1:p.Gly768Arg |
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
|
2018-12-18 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2022-11-03 | criteria provided, single submitter | hypertrophic cardiomyopathy |
germline
|
Detail |
|
Pathogenic
|
2021-02-01 | criteria provided, single submitter | cardiomyopathy |
germline
|
Detail |
|
Pathogenic
|
2021-05-04 | criteria provided, single submitter |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.252 | Cardiomyopathy, Hypertrophic, Familial | NA | CLINVAR | Detail | |
| 0.125 | restrictive cardiomyopathy | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000257.4(MYH7):c.2302G>C (p.Gly768Arg) AND not provided | ClinVar | Detail |
| NM_000257.4(MYH7):c.2302G>C (p.Gly768Arg) AND Hypertrophic cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.2302G>C (p.Gly768Arg) AND Cardiomyopathy | ClinVar | Detail |
| NM_000257.4(MYH7):c.2302G>C (p.Gly768Arg) AND Cardiovascular phenotype | 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
- rs727503260 dbSNP
- Genome
- hg38
- Position
- chr14:23,425,403-23,425,403
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
Genome browser