NM_006095.2(ATP8A1):c.2254G>T (p.Ala752Ser) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 6, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004114201.1
Allele description [Variation Report for NM_006095.2(ATP8A1):c.2254G>T (p.Ala752Ser)]
NM_006095.2(ATP8A1):c.2254G>T (p.Ala752Ser)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Jun 9, 2024