NM_170707.4(LMNA):c.749C>T (p.Ala250Val) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001186222.4
Allele description [Variation Report for NM_170707.4(LMNA):c.749C>T (p.Ala250Val)]
NM_170707.4(LMNA):c.749C>T (p.Ala250Val)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
Homo sapiens ankyrin repeat domain 28 (ANKRD28), transcript variant 8, mRNA
Homo sapiens ankyrin repeat domain 28 (ANKRD28), transcript variant 8, mRNAgi|1677538483|ref|NM_001349281.2|Nucleotide
-
PREDICTED: Homo sapiens ankyrin repeat domain 28 (ANKRD28), transcript variant X...
PREDICTED: Homo sapiens ankyrin repeat domain 28 (ANKRD28), transcript variant X11, mRNAgi|2217342877|ref|XM_047447805.1|Nucleotide
-
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isofo...
serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform X16 [Homo sapiens]gi|2217342897|ref|XP_047303769.1|Protein
-
PREDICTED: Homo sapiens ankyrin repeat domain 28 (ANKRD28), transcript variant X...
PREDICTED: Homo sapiens ankyrin repeat domain 28 (ANKRD28), transcript variant X2, mRNAgi|2462588420|ref|XM_054345856.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024