NM_018297.4(NGLY1):c.659G>A (p.Gly220Asp) AND Congenital disorder of deglycosylation
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Oct 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000693243.6
Allele description [Variation Report for NM_018297.4(NGLY1):c.659G>A (p.Gly220Asp)]
NM_018297.4(NGLY1):c.659G>A (p.Gly220Asp)
Condition(s)
-
NM_001131009 (146)
GEO Profiles
-
Procambarus virginalis voucher PFSL7 cytochrome c oxidase subunit I (COX1) gene,...
Procambarus virginalis voucher PFSL7 cytochrome c oxidase subunit I (COX1) gene, partial cds; mitochondrialgi|2032550279|gb|MZ097591.1|Nucleotide
-
hypothetical protein [Stx2-converting phage Stx2a_F723]
hypothetical protein [Stx2-converting phage Stx2a_F723]gi|946713584|dbj|BAT32231.1|Protein
-
ATP/GTP binding protein-like 2, isoform CRA_c [Mus musculus]
ATP/GTP binding protein-like 2, isoform CRA_c [Mus musculus]gi|148695549|gb|EDL27496.1||gnl|WGS |mCP13577Protein
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See more...Assertion and evidence details
Last Updated: Jul 7, 2024