ClinGen Classification:
Classification
Likely Pathogenic
Condition
hypertrophic cardiomyopathy
VCEP
Cardiomyopathy VCEP
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000355349 (MANE Select)
0.734
ENST00000544444
0.734
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23429901C>T , CM000676.2:g.23429901C>T | GRCh38 |
| NC_000014.8:g.23899110C>T , CM000676.1:g.23899110C>T | GRCh37 |
| NC_000014.7:g.22968950C>T | NCBI36 |
| NG_007884.1:g.10761G>A , LRG_384:g.10761G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.1012G>A MANE Select | ENSP00000347507.3:p.Val338Met | |
| ENST00000355349.3:c.1012G>A | ENSP00000347507.3:p.Val338Met | |
| NM_000257.3:c.1012G>A | NP_000248.2:p.Val338Met | |
| XR_245686.3:n.1118G>A | ||
| XM_017021340.1:c.1012G>A | XP_016876829.1:p.Val338Met | |
| NM_000257.4:c.1012G>A MANE Select | NP_000248.2:p.Val338Met |