NM_006904.7(PRKDC):c.5709G>A (p.Ser1903=) AND Severe combined immunodeficiency due to DNA-PKcs deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000966469.8
Allele description [Variation Report for NM_006904.7(PRKDC):c.5709G>A (p.Ser1903=)]
NM_006904.7(PRKDC):c.5709G>A (p.Ser1903=)
Condition(s)
-
uncharacterized protein An09g04950 [Aspergillus niger]
uncharacterized protein An09g04950 [Aspergillus niger]gi|2582625656|ref|XP_001393807.3|Protein
-
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See more...Assertion and evidence details
Last Updated: Aug 4, 2024