NM_000500.9(CYP21A2):c.1451G>A (p.Arg484Gln) AND not provided
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Aug 25, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000711373.4
Allele description [Variation Report for NM_000500.9(CYP21A2):c.1451G>A (p.Arg484Gln)]
NM_000500.9(CYP21A2):c.1451G>A (p.Arg484Gln)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript ...
Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNAgi|35493712|ref|NM_017890.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 7, 2024