chr14:23874581:G>A Detail (hg19) (MYH6, LOC114827851)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:23,874,581-23,874,581 |
| hg38 | chr14:23,405,372-23,405,372 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002471.3:c.353C>T | NP_002462.2:p.Ser118Leu |
| Ensemble | ENST00000405093.9:c.353C>T | ENST00000405093.9:p.Ser118Leu |
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
|
2021-11-25 | criteria provided, single submitter | hypertrophic cardiomyopathy 14 |
germline
|
Detail |
|
Uncertain significance
|
2022-01-27 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
not provided
|
no assertion provided | dilated cardiomyopathy 1EE,hypertrophic cardiomyopathy 14 |
unknown
|
Detail | |
|
not provided
|
no assertion provided | dilated cardiomyopathy 1EE,hypertrophic cardiomyopathy 14 |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_002471.4(MYH6):c.353C>T (p.Ser118Leu) AND Hypertrophic cardiomyopathy 14 | ClinVar | Detail |
| NM_002471.4(MYH6):c.353C>T (p.Ser118Leu) AND not provided | ClinVar | Detail |
| NM_002471.4(MYH6):c.353C>T (p.Ser118Leu) AND multiple conditions | ClinVar | Detail |
| NM_002471.4(MYH6):c.353C>T (p.Ser118Leu) 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
- rs1322526035 dbSNP
- Genome
- hg19
- Position
- chr14:23,874,581-23,874,581
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser