NM_002637.4(PHKA1):c.3116G>A (p.Ser1039Asn) AND Glycogen storage disease IXd
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 3, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003510794.1
Allele description [Variation Report for NM_002637.4(PHKA1):c.3116G>A (p.Ser1039Asn)]
NM_002637.4(PHKA1):c.3116G>A (p.Ser1039Asn)
Condition(s)
-
Chromosome neighbors for GEO Profiles (Select 106590774) (18)
GEO Profiles
-
Corvus kubaryi
Corvus kubaryiCorvus kubaryi VariationBioProject
-
BioProject Links for BioSample (Select 8910267) (1)
BioProject
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024