NM_001458.5(FLNC):c.2701A>C (p.Lys901Gln) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001922701.5
Allele description [Variation Report for NM_001458.5(FLNC):c.2701A>C (p.Lys901Gln)]
NM_001458.5(FLNC):c.2701A>C (p.Lys901Gln)
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
-
cytochrome c oxidase subunit 1, partial (mitochondrion) [Zeugodacus cucurbitae]
cytochrome c oxidase subunit 1, partial (mitochondrion) [Zeugodacus cucurbitae]gi|1169413537|gb|ARC52539.1|Protein
-
fut9a [Seriola dumerili]
fut9a [Seriola dumerili]Gene ID:111226005Gene
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Last Updated: Feb 28, 2024