NM_001927.4(DES):c.415G>A (p.Glu139Lys) AND Desmin-related myofibrillar myopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000463745.9
Allele description [Variation Report for NM_001927.4(DES):c.415G>A (p.Glu139Lys)]
NM_001927.4(DES):c.415G>A (p.Glu139Lys)
Condition(s)
- Name:
- Desmin-related myofibrillar myopathy (MFM1)
- Synonyms:
- Desminopathy; Desmin related myopathy (former name); Desmin storage myopathy (former name); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011076; MedGen: C1832370; Orphanet: 363543; Orphanet: 98909; OMIM: 601419
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uncharacterized protein YOR302W [Saccharomyces cerevisiae S288C]
uncharacterized protein YOR302W [Saccharomyces cerevisiae S288C]gi|6324877|ref|NP_014946.1|Protein
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Corynebacterium incognita strain:Marseille-Q3630
Corynebacterium incognita strain:Marseille-Q3630Corynebacterium incognita strain:Marseille-Q3630 Genome sequencingBioProject
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S41 family peptidase [Brevibacillus borstelensis]
S41 family peptidase [Brevibacillus borstelensis]gi|2579522059|gnl|PRJNA622823|RFB14 5|gb|WNF08337.1|Protein
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ni79c08.s1 NCI_CGAP_Pr12 Homo sapiens cDNA clone IMAGE:983054, mRNA sequence
ni79c08.s1 NCI_CGAP_Pr12 Homo sapiens cDNA clone IMAGE:983054, mRNA sequencegi|2287962|gnl|dbEST|1187576|gb|AA5 .1|Nucleotide
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S41 family peptidase [Agathobaculum sp. NTUH-O15-33]
S41 family peptidase [Agathobaculum sp. NTUH-O15-33]gi|2613040191|gnl|PRJNA1023577|RWV9 00|gb|WNX83254.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024