NM_001267550.2(TTN):c.28678G>A (p.Asp9560Asn) AND Early-onset myopathy with fatal cardiomyopathy
- Germline classification:
- Benign (1 submission)
- 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:
- RCV001840379.2
Allele description [Variation Report for NM_001267550.2(TTN):c.28678G>A (p.Asp9560Asn)]
NM_001267550.2(TTN):c.28678G>A (p.Asp9560Asn)
Condition(s)
-
Homo sapiens taxilin alpha, mRNA (cDNA clone MGC:99831 IMAGE:6598234), complete ...
Homo sapiens taxilin alpha, mRNA (cDNA clone MGC:99831 IMAGE:6598234), complete cdsgi|51873973|gb|BC080578.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jul 29, 2024