chr14:23873993:C>T Detail (hg19) (MYH6, LOC114827851)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:23,873,993-23,873,993 |
| hg38 | chr14:23,404,784-23,404,784 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002471.3:c.569G>A | NP_002462.2:p.Arg190His |
| Ensemble | ENST00000405093.9:c.569G>A | ENST00000405093.9:p.Arg190His |
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
|
2023-03-20 | criteria provided, single submitter | hypertrophic cardiomyopathy 14 |
germline
|
Detail |
|
Uncertain significance
|
2022-10-21 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Uncertain significance
|
2022-06-09 | criteria provided, single submitter |
germline
|
Detail | |
|
Uncertain significance
|
2021-09-19 | criteria provided, single submitter | dilated cardiomyopathy 1EE,hypertrophic cardiomyopathy 1,hypertrophic cardiomyopathy 14,Atrial septal defect 3,Sick sinus syndrome 3, susceptibility to |
unknown
|
Detail |
|
Uncertain significance
|
2021-09-19 | criteria provided, single submitter | dilated cardiomyopathy 1EE,hypertrophic cardiomyopathy 1,hypertrophic cardiomyopathy 14,Atrial septal defect 3,Sick sinus syndrome 3, susceptibility to |
unknown
|
Detail |
|
Uncertain significance
|
2021-09-19 | criteria provided, single submitter | dilated cardiomyopathy 1EE,hypertrophic cardiomyopathy 1,hypertrophic cardiomyopathy 14,Atrial septal defect 3,Sick sinus syndrome 3, susceptibility to |
unknown
|
Detail |
|
Uncertain significance
|
2021-09-19 | criteria provided, single submitter | dilated cardiomyopathy 1EE,hypertrophic cardiomyopathy 1,hypertrophic cardiomyopathy 14,Atrial septal defect 3,Sick sinus syndrome 3, susceptibility to |
unknown
|
Detail |
|
Uncertain significance
|
2021-09-19 | criteria provided, single submitter | dilated cardiomyopathy 1EE,hypertrophic cardiomyopathy 1,hypertrophic cardiomyopathy 14,Atrial septal defect 3,Sick sinus syndrome 3, susceptibility to |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_002471.4(MYH6):c.569G>A (p.Arg190His) AND Hypertrophic cardiomyopathy 14 | ClinVar | Detail |
| NM_002471.4(MYH6):c.569G>A (p.Arg190His) AND not provided | ClinVar | Detail |
| NM_002471.4(MYH6):c.569G>A (p.Arg190His) AND Cardiovascular phenotype | ClinVar | Detail |
| NM_002471.4(MYH6):c.569G>A (p.Arg190His) AND multiple conditions | ClinVar | Detail |
| NM_002471.4(MYH6):c.569G>A (p.Arg190His) AND multiple conditions | ClinVar | Detail |
| NM_002471.4(MYH6):c.569G>A (p.Arg190His) AND multiple conditions | ClinVar | Detail |
| NM_002471.4(MYH6):c.569G>A (p.Arg190His) AND multiple conditions | ClinVar | Detail |
| NM_002471.4(MYH6):c.569G>A (p.Arg190His) 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
- rs1891729151 dbSNP
- Genome
- hg19
- Position
- chr14:23,873,993-23,873,993
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser