NM_001253852.3(AP4B1):c.671G>A (p.Arg224His) AND Hereditary spastic paraplegia 47
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 28, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001329593.1
Allele description [Variation Report for NM_001253852.3(AP4B1):c.671G>A (p.Arg224His)]
NM_001253852.3(AP4B1):c.671G>A (p.Arg224His)
Condition(s)
Assertion and evidence details
Last Updated: Apr 23, 2022