NM_001382.4(DPAGT1):c.116_117delinsAA (p.Ala39Glu) AND Congenital disorder of glycosylation
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001291452.1
Allele description [Variation Report for NM_001382.4(DPAGT1):c.116_117delinsAA (p.Ala39Glu)]
NM_001382.4(DPAGT1):c.116_117delinsAA (p.Ala39Glu)
Condition(s)
Assertion and evidence details
Last Updated: Mar 26, 2023