NM_001458.5(FLNC):c.6997+4A>G AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000689737.7
Allele description [Variation Report for NM_001458.5(FLNC):c.6997+4A>G]
NM_001458.5(FLNC):c.6997+4A>G
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
-
Homo sapiens spexin hormone (SPX), mRNA
Homo sapiens spexin hormone (SPX), mRNAgi|142378186|ref|NM_030572.2|Nucleotide
-
Alg11 ALG11 alpha-1,2-mannosyltransferase [Mus musculus]
Alg11 ALG11 alpha-1,2-mannosyltransferase [Mus musculus]Gene ID:207958Gene
-
207958[uid] AND (alive[prop]) (1)
Gene
-
Homo sapiens chromosome 12 open reading frame 39, mRNA (cDNA clone MGC:10946 IMA...
Homo sapiens chromosome 12 open reading frame 39, mRNA (cDNA clone MGC:10946 IMAGE:3631700), complete cdsgi|13279265|gb|BC004336.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024