NM_058246.4(DNAJB6):c.273C>G (p.Phe91Leu) 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:
- RCV001814119.1
Allele description [Variation Report for NM_058246.4(DNAJB6):c.273C>G (p.Phe91Leu)]
NM_058246.4(DNAJB6):c.273C>G (p.Phe91Leu)
Condition(s)
- Name:
- Abnormality of the musculature
- Identifiers:
- MedGen: C4021745; Human Phenotype Ontology: HP:0003011
-
guanine nucleotide-binding protein G(q) subunit alpha [Trematomus bernacchii]
guanine nucleotide-binding protein G(q) subunit alpha [Trematomus bernacchii]gi|1838219956|ref|XP_033973809.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024