NM_003640.5(ELP1):c.2631C>T (p.Ala877=) AND not specified
- Germline classification:
- Benign/Likely benign (2 submissions)
- Last evaluated:
- Sep 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002298586.9
Allele description [Variation Report for NM_003640.5(ELP1):c.2631C>T (p.Ala877=)]
NM_003640.5(ELP1):c.2631C>T (p.Ala877=)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
RecName: Full=Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransfera...
RecName: Full=Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase; AltName: Full=Alpha-1,2-glucosyltransferase ALG10-A; AltName: Full=Alpha-2-glucosyltransferase ALG10-A; AltName: Full=Asparagine-linked glycosylation protein 10 homolog Agi|74736030|sp|Q5BKT4.1|AG10A_HUMANProtein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024