NM_000158.4(GBE1):c.708G>C (p.Gln236His) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 26, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002254901.3
Allele description [Variation Report for NM_000158.4(GBE1):c.708G>C (p.Gln236His)]
NM_000158.4(GBE1):c.708G>C (p.Gln236His)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Oct 26, 2024