NM_000135.4(FANCA):c.4199G>C (p.Arg1400Pro) AND Fanconi anemia complementation group A
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 28, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000989668.1
Allele description [Variation Report for NM_000135.4(FANCA):c.4199G>C (p.Arg1400Pro)]
NM_000135.4(FANCA):c.4199G>C (p.Arg1400Pro)
Condition(s)
-
Chain u, DNA-directed RNA polymerase II subunit RPB7
Chain u, DNA-directed RNA polymerase II subunit RPB7gi|2033713636|pdb|7EGA|uProtein
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Last Updated: Sep 1, 2024