NM_001458.5(FLNC):c.1898C>T (p.Thr633Met) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000800296.6
Allele description [Variation Report for NM_001458.5(FLNC):c.1898C>T (p.Thr633Met)]
NM_001458.5(FLNC):c.1898C>T (p.Thr633Met)
Condition(s)
- Name:
- Myofibrillar myopathy 5
- Synonyms:
- FILAMINOPATHY, AUTOSOMAL DOMINANT; Myofibrillar myopathy, filamin C-related; Filaminopathy (type)
- Identifiers:
- MONDO: MONDO:0012289; MedGen: C1836050; OMIM: 609524
- Name:
- Distal myopathy with posterior leg and anterior hand involvement
- Synonyms:
- WILLIAMS DISTAL MYOPATHY; Myopathy, distal, 4
- Identifiers:
- MONDO: MONDO:0013550; MedGen: C3279722; Orphanet: 63273; OMIM: 614065
- Name:
- Hypertrophic cardiomyopathy 26
- Synonyms:
- Cardiomyopathy, familial hypertrophic, 26
- Identifiers:
- MONDO: MONDO:0014883; MedGen: C4310749; Orphanet: 75249; OMIM: 617047
- Name:
- Dilated Cardiomyopathy, Dominant
- Identifiers:
- MedGen: CN239310
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SDR family oxidoreductase [Trichodesmium erythraeum]
SDR family oxidoreductase [Trichodesmium erythraeum]gi|499929356|ref|WP_011610090.1|Protein
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LOC101928214 [Homo sapiens]
LOC101928214 [Homo sapiens]Gene ID:101928214Gene
-
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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See more...Assertion and evidence details
Last Updated: Oct 20, 2024