NM_001330078.2(NRXN1):c.3049G>C (p.Ala1017Pro) AND Pitt-Hopkins-like syndrome 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001228295.6
Allele description [Variation Report for NM_001330078.2(NRXN1):c.3049G>C (p.Ala1017Pro)]
NM_001330078.2(NRXN1):c.3049G>C (p.Ala1017Pro)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024