NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter) AND Abnormality of the musculature
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001813941.1
Allele description [Variation Report for NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter)]
NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter)
Condition(s)
- Name:
- Abnormality of the musculature
- Identifiers:
- MedGen: C4021745; Human Phenotype Ontology: HP:0003011
-
AL966660 XGC-gastrula Xenopus tropicalis cDNA clone TGas137j12 5', mRNA sequence
AL966660 XGC-gastrula Xenopus tropicalis cDNA clone TGas137j12 5', mRNA sequencegi|39021395|gnl|dbEST|20754619|emb| 660.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024