NM_000391.4(TPP1):c.958G>A (p.Val320Met) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 21, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002385250.2
Allele description [Variation Report for NM_000391.4(TPP1):c.958G>A (p.Val320Met)]
NM_000391.4(TPP1):c.958G>A (p.Val320Met)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Mus musculus solute carrier family 2 (facilitated glucose transporter), member 3...
Mus musculus solute carrier family 2 (facilitated glucose transporter), member 3, mRNA (cDNA clone MGC:31655 IMAGE:4527667), complete cdsgi|21706626|gb|BC034122.1|Nucleotide
-
Cytochrome c oxidase subunit 8C [Homo sapiens]
Cytochrome c oxidase subunit 8C [Homo sapiens]gi|72533397|gb|AAI01127.1|Protein
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Last Updated: May 1, 2024