NM_000257.4(MYH7):c.4188G>A (p.Arg1396=) AND MYH7-related skeletal myopathy
- Germline classification:
- Benign (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:
- RCV000294195.12
Allele description [Variation Report for NM_000257.4(MYH7):c.4188G>A (p.Arg1396=)]
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=)
Condition(s)
- Name:
- MYH7-related skeletal myopathy
- Synonyms:
- MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT; MYOPATHY, LATE DISTAL HEREDITARY; Myopathy, distal, 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008050; MedGen: C4552004; Orphanet: 59135; OMIM: 160500
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Ceratobasidium cereale isolate R0301 succinate dehydrogenase subunit D gene, com...
Ceratobasidium cereale isolate R0301 succinate dehydrogenase subunit D gene, complete cdsgi|1031987713|gb|KU299051.1|Nucleotide
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Last Updated: Sep 29, 2024