NM_000135.4(FANCA):c.3805C>T (p.Leu1269=) AND Fanconi anemia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 8, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001421652.6
Allele description [Variation Report for NM_000135.4(FANCA):c.3805C>T (p.Leu1269=)]
NM_000135.4(FANCA):c.3805C>T (p.Leu1269=)
Condition(s)
-
Chain D, CALMODULIN
Chain D, CALMODULINgi|18655700|pdb|1K90|DProtein
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See more...Assertion and evidence details
Last Updated: May 12, 2024