chr14:23874955:C>T Detail (hg19) (MYH6, LOC114827851)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:23,874,955-23,874,955 |
| hg38 | chr14:23,405,746-23,405,746 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002471.3:c.226G>A | NP_002462.2:p.Val76Met |
| Ensemble | ENST00000405093.9:c.226G>A | ENST00000405093.9:p.Val76Met |
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 |
|---|---|---|---|---|---|
|
Uncertain significance
|
2023-01-06 | criteria provided, single submitter | hypertrophic cardiomyopathy 14 |
germline
|
Detail |
|
Uncertain significance
|
2021-06-28 | criteria provided, single submitter |
germline
|
Detail | |
|
Uncertain significance
|
2021-09-03 | criteria provided, single submitter | Atrial septal defect 3,Sick sinus syndrome 3, susceptibility to,hypertrophic cardiomyopathy 14,hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1EE |
unknown
|
Detail |
|
Uncertain significance
|
2021-09-03 | criteria provided, single submitter | Atrial septal defect 3,Sick sinus syndrome 3, susceptibility to,hypertrophic cardiomyopathy 14,hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1EE |
unknown
|
Detail |
|
Uncertain significance
|
2021-09-03 | criteria provided, single submitter | Atrial septal defect 3,Sick sinus syndrome 3, susceptibility to,hypertrophic cardiomyopathy 14,hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1EE |
unknown
|
Detail |
|
Uncertain significance
|
2021-09-03 | criteria provided, single submitter | Atrial septal defect 3,Sick sinus syndrome 3, susceptibility to,hypertrophic cardiomyopathy 14,hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1EE |
unknown
|
Detail |
|
Uncertain significance
|
2021-09-03 | criteria provided, single submitter | Atrial septal defect 3,Sick sinus syndrome 3, susceptibility to,hypertrophic cardiomyopathy 14,hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1EE |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_002471.4(MYH6):c.226G>A (p.Val76Met) AND Hypertrophic cardiomyopathy 14 | ClinVar | Detail |
| NM_002471.4(MYH6):c.226G>A (p.Val76Met) AND Cardiovascular phenotype | ClinVar | Detail |
| NM_002471.4(MYH6):c.226G>A (p.Val76Met) AND multiple conditions | ClinVar | Detail |
| NM_002471.4(MYH6):c.226G>A (p.Val76Met) AND multiple conditions | ClinVar | Detail |
| NM_002471.4(MYH6):c.226G>A (p.Val76Met) AND multiple conditions | ClinVar | Detail |
| NM_002471.4(MYH6):c.226G>A (p.Val76Met) AND multiple conditions | ClinVar | Detail |
| NM_002471.4(MYH6):c.226G>A (p.Val76Met) AND multiple conditions | ClinVar | 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
- rs977234074 dbSNP
- Genome
- hg19
- Position
- chr14:23,874,955-23,874,955
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser