NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) AND Dilated cardiomyopathy 1A
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Feb 15, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001096835.8
Allele description [Variation Report for NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp)]
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp)
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
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LOC101928214 [Homo sapiens]
LOC101928214 [Homo sapiens]Gene ID:101928214Gene
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Chromosome neighbors for GEO Profiles (Select 44329436) (18)
GEO Profiles
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Salmonella enterica subsp. enterica serovar Muenchen strain 13V1298 NODE_20_leng...
Salmonella enterica subsp. enterica serovar Muenchen strain 13V1298 NODE_20_length_55692_cov_38.7884, whole genome shotgun sequencegi|1693481091|ref|NZ_VFFN01000020.1 |WGS:NZ_VFFN01|NODE_20_length_55692_cov_38.7884Nucleotide
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Erysiphe pulchra isolate Cflorida contig_5702, whole genome shotgun sequence
Erysiphe pulchra isolate Cflorida contig_5702, whole genome shotgun sequencegi|1339924180|gb|PEDP01005700.1||gn :PEDP01|contig_5702Nucleotide
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Erysiphe pulchra isolate Cflorida contig_5787, whole genome shotgun sequence
Erysiphe pulchra isolate Cflorida contig_5787, whole genome shotgun sequencegi|1339924083|gb|PEDP01005785.1||gn :PEDP01|contig_5787Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024