NM_001079802.2(FKTN):c.*760A>C AND Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001165799.4
Allele description [Variation Report for NM_001079802.2(FKTN):c.*760A>C]
NM_001079802.2(FKTN):c.*760A>C
Condition(s)
- Name:
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
- Synonyms:
- Fukuyama type muscular dystrophy; Muscular dystrophy, congenital progressive, with mental retardation; Muscular dystrophy, congenital, with central nervous system involvement; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009678; MedGen: C0410174; Orphanet: 588; Orphanet: 899; OMIM: 253800
-
Homo sapiens CLPTM1 like (CLPTM1L), mRNA
Homo sapiens CLPTM1 like (CLPTM1L), mRNAgi|1519242296|ref|NM_030782.5|Nucleotide
-
cytosolic thiouridylase subunit Ctu1 [Schizosaccharomyces pombe]
cytosolic thiouridylase subunit Ctu1 [Schizosaccharomyces pombe]gi|19112856|ref|NP_596064.1|Protein
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Last Updated: Dec 24, 2023