NM_000179.3(MSH6):c.2403dup (p.Pro802fs) AND Lynch syndrome 5
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003450279.1
Allele description [Variation Report for NM_000179.3(MSH6):c.2403dup (p.Pro802fs)]
NM_000179.3(MSH6):c.2403dup (p.Pro802fs)
Condition(s)
-
RecName: Full=Myogenic factor 5; Short=Myf-5
RecName: Full=Myogenic factor 5; Short=Myf-5gi|3914106|sp|Q91154.1|MYF5_NOTVIProtein
-
Cervical C6/C7 vertebrae fusion
Cervical C6/C7 vertebrae fusionMedGen
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024