NM_001458.5(FLNC):c.7906A>T (p.Ser2636Cys) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000688514.7
Allele description [Variation Report for NM_001458.5(FLNC):c.7906A>T (p.Ser2636Cys)]
NM_001458.5(FLNC):c.7906A>T (p.Ser2636Cys)
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
-
extracellular sulfatase Sulf-2 [Podarcis raffonei]
extracellular sulfatase Sulf-2 [Podarcis raffonei]gi|2437930356|ref|XP_053250166.1|Protein
-
yf13c02.s1 Soares fetal liver spleen 1NFLS Homo sapiens cDNA clone IMAGE:126722 ...
yf13c02.s1 Soares fetal liver spleen 1NFLS Homo sapiens cDNA clone IMAGE:126722 3', mRNA sequencegi|758947|gnl|dbEST|177320|gb|R0702Nucleotide
-
LOC123210213 [Mangifera indica]
LOC123210213 [Mangifera indica]Gene ID:123210213Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024