NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu) AND Early-onset myopathy with fatal cardiomyopathy
- Germline classification:
- Benign/Likely benign (2 submissions)
- Last evaluated:
- Sep 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000343753.15
Allele description [Variation Report for NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu)]
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu)
Condition(s)
-
Homo sapiens hypothetical protein FLJ10251 (FLJ10251), mRNA
Homo sapiens hypothetical protein FLJ10251 (FLJ10251), mRNAgi|8922310|ref|NM_018039.1|Nucleotide
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Last Updated: Oct 13, 2024