NM_000294.3(PHKG2):c.802-2A>C AND Glycogen storage disease IXc
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002283984.1
Allele description [Variation Report for NM_000294.3(PHKG2):c.802-2A>C]
NM_000294.3(PHKG2):c.802-2A>C
Condition(s)
-
alpha-1,2-mannosyltransferase ALG9 [Anopheles funestus]
alpha-1,2-mannosyltransferase ALG9 [Anopheles funestus]gi|2273277574|ref|XP_049282096.1|Protein
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See more...Assertion and evidence details
Last Updated: Jun 10, 2023