NM_001458.5(FLNC):c.2307G>A (p.Val769=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 26, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002489235.1
Allele description [Variation Report for NM_001458.5(FLNC):c.2307G>A (p.Val769=)]
NM_001458.5(FLNC):c.2307G>A (p.Val769=)
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
-
acyl-coenzyme A thioesterase THEM4 [Pan paniscus]
acyl-coenzyme A thioesterase THEM4 [Pan paniscus]gi|397492730|ref|XP_003817273.1|Protein
-
PREDICTED: Pan paniscus thioesterase superfamily member 4 (THEM4), mRNA
PREDICTED: Pan paniscus thioesterase superfamily member 4 (THEM4), mRNAgi|2694387539|ref|XM_003817225.6|Nucleotide
-
forkhead box protein J2 [Homo sapiens]
forkhead box protein J2 [Homo sapiens]gi|8923842|ref|NP_060886.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024