NM_170707.4(LMNA):c.611T>G (p.Leu204Arg) AND Dilated cardiomyopathy 1A
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000623152.3
Allele description [Variation Report for NM_170707.4(LMNA):c.611T>G (p.Leu204Arg)]
NM_170707.4(LMNA):c.611T>G (p.Leu204Arg)
Condition(s)
- Name:
- Dilated cardiomyopathy 1A (CMD1A)
- Synonyms:
- CARDIOMYOPATHY, CONGESTIVE; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; Idiopathic dilated cardiomyopathy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007269; MedGen: C1449563; Orphanet: 300751; OMIM: 115200
-
PREDICTED: Rattus norvegicus protocadherin 9 (Pcdh9), transcript variant X4, mRN...
PREDICTED: Rattus norvegicus protocadherin 9 (Pcdh9), transcript variant X4, mRNAgi|2678899309|ref|XM_063274318.1|Nucleotide
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Last Updated: Feb 4, 2024