NM_001164277.2(SLC37A4):c.1287G>C (p.Glu429Asp) AND Glucose-6-phosphate transport defect
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 4, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001942933.2
Allele description [Variation Report for NM_001164277.2(SLC37A4):c.1287G>C (p.Glu429Asp)]
NM_001164277.2(SLC37A4):c.1287G>C (p.Glu429Asp)
Condition(s)
-
PREDICTED: Homo sapiens retinoschisin 1 (RS1), transcript variant X1, mRNA
PREDICTED: Homo sapiens retinoschisin 1 (RS1), transcript variant X1, mRNAgi|2217393533|ref|XM_047442337.1|Nucleotide
-
nad5 [Clathrina clathrus]
nad5 [Clathrina clathrus]Gene ID:15332550Gene
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See more...Assertion and evidence details
Last Updated: Apr 15, 2024