NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs) AND Primary familial hypertrophic cardiomyopathy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 1, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001263510.1
Allele description [Variation Report for NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs)]
NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs)
Condition(s)
-
protein FAM110A [Homo sapiens]
protein FAM110A [Homo sapiens]gi|46391104|ref|NP_997004.1|Protein
-
Profile neighbors for GEO Profiles (Select 34524331) (200)
GEO Profiles
-
PSMD6-AS2 PSMD6 antisense RNA 2 [Homo sapiens]
PSMD6-AS2 PSMD6 antisense RNA 2 [Homo sapiens]Gene ID:100507062Gene
-
Gene Links for GEO Profiles (Select 34524339) (1)
Gene
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See more...Assertion and evidence details
Last Updated: May 1, 2024