NM_001267550.2(TTN):c.39128-14T>C AND Early-onset myopathy with fatal cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000295213.13
Allele description [Variation Report for NM_001267550.2(TTN):c.39128-14T>C]
NM_001267550.2(TTN):c.39128-14T>C
Condition(s)
-
Mus musculus glutathione reductase 1 (Gsr), mRNA
Mus musculus glutathione reductase 1 (Gsr), mRNAgi|13775153|ref|NM_010344.1|Nucleotide
-
gxylt1a glucoside xylosyltransferase 1a [Danio rerio]
gxylt1a glucoside xylosyltransferase 1a [Danio rerio]Gene ID:100333154Gene
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Last Updated: Oct 13, 2024