NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) AND MYH7-related skeletal myopathy
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001112662.11
Allele description [Variation Report for NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys)]
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys)
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
-
HotDog domain-containing protein [Dunaliella salina]
HotDog domain-containing protein [Dunaliella salina]gi|1870040238|gb|KAF5833551.1||gnl| SFN|DUNSADRAFT_10083Protein
-
hypothetical protein DUNSADRAFT_10142 [Dunaliella salina]
hypothetical protein DUNSADRAFT_10142 [Dunaliella salina]gi|1870040217|gb|KAF5833531.1||gnl| SFN|DUNSADRAFT_10142DProtein
-
putative Cysteine-rich venom protein LIO1 [Hypsibius exemplaris]
putative Cysteine-rich venom protein LIO1 [Hypsibius exemplaris]gi|1174757576|gb|OQV25518.1||gnl|WG J|BV898_00458.1Protein
-
Homo sapiens chromosome 16 open reading frame 61, mRNA (cDNA clone MGC:45036 IMA...
Homo sapiens chromosome 16 open reading frame 61, mRNA (cDNA clone MGC:45036 IMAGE:5399193), complete cdsgi|21595752|gb|BC032631.1|Nucleotide
-
F1PDQ3 (0)
Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 13, 2024