NM_001025389.2(AMPD3):c.1532G>A (p.Arg511Gln) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 7, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004215150.1
Allele description [Variation Report for NM_001025389.2(AMPD3):c.1532G>A (p.Arg511Gln)]
NM_001025389.2(AMPD3):c.1532G>A (p.Arg511Gln)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Jun 2, 2024