ClinGen Classification:
Classification
Likely Pathogenic
Condition
hypertrophic cardiomyopathy
VCEP
Cardiomyopathy VCEP
ClinVar RCV:
ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Exomes Max Group AF
0.00000309 (NFE)
Revel Score:
ENST00000355349 (MANE Select)
0.812
ENST00000544444
0.812
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23415652G>A , CM000676.2:g.23415652G>A | GRCh38 |
| NC_000014.8:g.23884861G>A , CM000676.1:g.23884861G>A | GRCh37 |
| NC_000014.7:g.22954701G>A | NCBI36 |
| NG_007884.1:g.25010C>T , LRG_384:g.25010C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.5134C>T (MYH7) MANE Select | ENSP00000347507.3:p.Arg1712Trp | |
| ENST00000355349.3:c.5134C>T (MYH7) | ENSP00000347507.3:p.Arg1712Trp | |
| NM_000257.3:c.5134C>T (MYH7) | NP_000248.2:p.Arg1712Trp | |
| NR_126491.1:n.84G>A (MHRT) | ||
| XM_017021340.1:c.5134C>T (MYH7) | XP_016876829.1:p.Arg1712Trp | |
| NM_000257.4:c.5134C>T (MYH7) MANE Select | NP_000248.2:p.Arg1712Trp |