NM_001130987.2(DYSF):c.1258del (p.Ala420fs) AND Miyoshi muscular dystrophy 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003469680.1
Allele description [Variation Report for NM_001130987.2(DYSF):c.1258del (p.Ala420fs)]
NM_001130987.2(DYSF):c.1258del (p.Ala420fs)
Condition(s)
-
phosphoethanolamine N-methyltransferase [Spinacia oleracea]
phosphoethanolamine N-methyltransferase [Spinacia oleracea]gi|2633382035|ref|NP_001413262.1|Protein
-
F-box only protein 4 [Rattus norvegicus]
F-box only protein 4 [Rattus norvegicus]gi|157818251|ref|NP_001101142.1|Protein
-
Rattus norvegicus plasma kallikrein-like protein 4, mRNA (cDNA clone MGC:94280 I...
Rattus norvegicus plasma kallikrein-like protein 4, mRNA (cDNA clone MGC:94280 IMAGE:7131896), complete cdsgi|50927020|gb|BC079217.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024