NM_000298.6(PKLR):c.1686C>T (p.Ser562=) AND Pyruvate kinase deficiency of red cells
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000358170.13
Allele description [Variation Report for NM_000298.6(PKLR):c.1686C>T (p.Ser562=)]
NM_000298.6(PKLR):c.1686C>T (p.Ser562=)
Condition(s)
- Name:
- Pyruvate kinase deficiency of red cells
- Synonyms:
- PYRUVATE KINASE DEFICIENCY OF ERYTHROCYTE; Pyruvate kinase deficiency; Pyruvate kinase deficiency of erythrocytes; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009950; MedGen: C0340968; Orphanet: 766; OMIM: 266200
-
Homo sapiens isolate CHM13 chromosome 7, alternate assembly T2T-CHM13v2.0
Homo sapiens isolate CHM13 chromosome 7, alternate assembly T2T-CHM13v2.0gi|2194973865|gnl|ASM:GCF_009914825 f|NC_060931.1||gpp|GPC_000012746.1||gnl|NCBI_GENOMES|119567Nucleotide
-
0377-919X[ISSN] (1)
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Last Updated: Jun 2, 2024