NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr) AND not provided
- Germline classification:
- Pathogenic/Likely pathogenic (3 submissions)
- Last evaluated:
- May 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001091843.27
Allele description [Variation Report for NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr)]
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Jun 9, 2024