NM_002637.4(PHKA1):c.2138-5T>C AND Glycogen storage disease IXd
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002890579.2
Allele description [Variation Report for NM_002637.4(PHKA1):c.2138-5T>C]
NM_002637.4(PHKA1):c.2138-5T>C
Condition(s)
-
LOC121530589 [Homo sapiens]
LOC121530589 [Homo sapiens]Gene ID:121530589Gene
-
(121530589[uid]) AND 9606[taxid] AND alive[Properties] AND (alive... (1)
(121530589[uid]) AND 9606[taxid] AND alive[Properties] AND (alive[prop])SearchGene
-
FOXC1 forkhead box C1 [Homo sapiens]
FOXC1 forkhead box C1 [Homo sapiens]Gene ID:2296Gene
-
Gene Links for GEO Profiles (Select 132357514) (1)
Gene
-
Nucleotide Links for Protein (Select 1859635910) (0)
Nucleotide
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Last Updated: Feb 28, 2024