NM_000257.4(MYH7):c.2955G>A (p.Leu985=) AND MYH7-related skeletal myopathy
- Germline classification:
- Uncertain significance (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:
- RCV000384448.12
Allele description [Variation Report for NM_000257.4(MYH7):c.2955G>A (p.Leu985=)]
NM_000257.4(MYH7):c.2955G>A (p.Leu985=)
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
-
ABC-type oligopeptide transporter ABCB9 isoform 5 [Homo sapiens]
ABC-type oligopeptide transporter ABCB9 isoform 5 [Homo sapiens]gi|339895787|ref|NP_001229943.1|Protein
-
BEN domain-containing protein 2 isoform 1 [Homo sapiens]
BEN domain-containing protein 2 isoform 1 [Homo sapiens]gi|193794843|ref|NP_699177.2|Protein
-
Homo sapiens cDNA clone IMAGE:6501134, partial cds
Homo sapiens cDNA clone IMAGE:6501134, partial cdsgi|49117509|gb|BC073144.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 16, 2024