NM_170707.4(LMNA):c.673del (p.Arg225fs) AND Dilated cardiomyopathy 1A
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003319247.1
Allele description [Variation Report for NM_170707.4(LMNA):c.673del (p.Arg225fs)]
NM_170707.4(LMNA):c.673del (p.Arg225fs)
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
-
putative poly(3-hydroxyalkanoate) synthase [Gloeothece tepidariorum PCC 6909]
putative poly(3-hydroxyalkanoate) synthase [Gloeothece tepidariorum PCC 6909]gi|829624540|gb|AKL80624.1|Protein
-
interleukin-1 alpha isoform X2 [Rattus norvegicus]
interleukin-1 alpha isoform X2 [Rattus norvegicus]gi|1958759789|ref|XP_038960173.1|Protein
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PREDICTED: Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase family ...
PREDICTED: Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase family member 5 (ENPP5), transcript variant X1, mRNAgi|2217362617|ref|XM_011514786.4|Nucleotide
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ankyrin repeat domain-containing protein [Desulfatibacillum aliphaticivorans]
ankyrin repeat domain-containing protein [Desulfatibacillum aliphaticivorans]gi|506428618|ref|WP_015948337.1|Protein
-
hypothetical protein D6D15_02232 [Aureobasidium pullulans]
hypothetical protein D6D15_02232 [Aureobasidium pullulans]gi|1624978649|gb|THW93797.1||gnl|WG R|D6D15_02232-RAProtein
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See more...Assertion and evidence details
Last Updated: Aug 13, 2023