NM_002470.4(MYH3):c.1960-8del AND Contractures, pterygia, and variable skeletal fusions syndrome 1B
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- May 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001778906.3
Allele description [Variation Report for NM_002470.4(MYH3):c.1960-8del]
NM_002470.4(MYH3):c.1960-8del
Condition(s)
-
Chain B, Avidin
Chain B, Avidingi|365813304|pdb|3VHH|BProtein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024