NM_002485.5(NBN):c.2196A>G (p.Gln732=) AND NBN-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 14, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003965037.1
Allele description [Variation Report for NM_002485.5(NBN):c.2196A>G (p.Gln732=)]
NM_002485.5(NBN):c.2196A>G (p.Gln732=)
Condition(s)
- Name:
- NBN-related disorder
- Synonyms:
- NBN-related condition
- Identifiers:
-
Uridine Diphosphate Glucose
Uridine Diphosphate GlucoseA key intermediate in carbohydrate metabolism. Serves as a precursor of glycogen, can be metabolized into UDPgalactose and UDPglucuronic acid which can then be incorporated in...<br/>Year introduced: 1991(1975)MeSH
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Last Updated: Sep 29, 2024