NM_145691.4(ATPAF2):c.868T>C (p.Ter290Arg) AND Microcephaly
- Germline classification:
- Uncertain significance (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001252933.1
Allele description [Variation Report for NM_145691.4(ATPAF2):c.868T>C (p.Ter290Arg)]
NM_145691.4(ATPAF2):c.868T>C (p.Ter290Arg)
Condition(s)
- Name:
- Microcephaly
- Synonyms:
- Microcephaly (disease)
- Identifiers:
- MONDO: MONDO:0001149; MedGen: C4551563; Human Phenotype Ontology: HP:0000252
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DA759114 NT2RP8 Homo sapiens cDNA clone NT2RP8007326 5', mRNA sequence
DA759114 NT2RP8 Homo sapiens cDNA clone NT2RP8007326 5', mRNA sequencegi|81260284|gnl|dbEST|33577982|dbj| 114.1|Nucleotide
-
Homo sapiens chromosome 16 clone RP11-433P17, complete sequence
Homo sapiens chromosome 16 clone RP11-433P17, complete sequencegi|22725949|gnl|lanlchgs|433P17|gb| 283.6|Nucleotide
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Homo sapiens lncRNA for PREDICTED lncRNA (TCONS_00214201)
Homo sapiens lncRNA for PREDICTED lncRNA (TCONS_00214201)gi|2028356603|emb|OA988461.1|Nucleotide
-
BioSample entry for genome collection GCA_000350165
BioSample entry for genome collection GCA_000350165biosample
-
Homo sapiens T lymphocyte c-maf long form mRNA, 3' UTR and partial cds
Homo sapiens T lymphocyte c-maf long form mRNA, 3' UTR and partial cdsgi|25990895|gb|AF447709.1|Nucleotide
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Last Updated: Dec 24, 2023