NM_000257.4(MYH7):c.2967T>C (p.Ile989=) AND Myosin storage 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:
- RCV003320059.8
Allele description [Variation Report for NM_000257.4(MYH7):c.2967T>C (p.Ile989=)]
NM_000257.4(MYH7):c.2967T>C (p.Ile989=)
Condition(s)
- Name:
- Myosin storage myopathy (CMYO7A)
- Synonyms:
- MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT; Scapuloperoneal myopathy, MYH7-related; MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008409; MedGen: C1842160; Orphanet: 437572; OMIM: 608358
-
Dehydrated hereditary stomatocytosis 2
Dehydrated hereditary stomatocytosis 2MedGen
-
C4225242[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024