NM_000170.3(GLDC):c.1971T>C (p.Ser657=) AND Non-ketotic hyperglycinemia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 8, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003011756.3
Allele description [Variation Report for NM_000170.3(GLDC):c.1971T>C (p.Ser657=)]
NM_000170.3(GLDC):c.1971T>C (p.Ser657=)
Condition(s)
- Name:
- Non-ketotic hyperglycinemia
- Synonyms:
- Glycine encephalopathy; Nonketotic hyperglycinemia
- Identifiers:
- MONDO: MONDO:0011612; MedGen: C0751748; Orphanet: 407; OMIM: PS605899; Human Phenotype Ontology: HP:0008288
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yd35h06.s1 Soares fetal liver spleen 1NFLS Homo sapiens cDNA clone IMAGE:110267 ...
yd35h06.s1 Soares fetal liver spleen 1NFLS Homo sapiens cDNA clone IMAGE:110267 3', mRNA sequencegi|685863|gnl|dbEST|133699|gb|T7134Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024