NM_004531.5(MOCS2):c.*2675A>C AND Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
- Germline classification:
- Uncertain significance (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:
- RCV001156769.4
Allele description [Variation Report for NM_004531.5(MOCS2):c.*2675A>C]
NM_004531.5(MOCS2):c.*2675A>C
Condition(s)
-
"Radioulnar synostosis"[Clinical Features] OR 57861[uid] (33)
MedGen
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"Laboratory for Molecular Medicine, Mass General Brigham Personal... (17)
"Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine"[submitter] AND "DYNC2H1"[gene]SearchClinVar
-
Mixture/Component Compounds for PubChem Compound (Select 16833407... (2)
Mixture/Component Compounds for PubChem Compound (Select 168334078)SearchPubChem Compound
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Culex quinquefasciatus strain JHB unplaced genomic scaffold, VPISU_Cqui_1.0_pri_...
Culex quinquefasciatus strain JHB unplaced genomic scaffold, VPISU_Cqui_1.0_pri_paternal PGA_scaffold_116__1_contigs__length_24999, whole genome shotgun sequencegi|1941828118|gnl|ASM:GCF_015732775 A_scaffold_116__1_contigs__length_24999|ref|NW_024037115.1||gpp|GPS_020827853.1|Nucleotide
-
MAG TPA: Arc-like DNA binding domain protein [virus sp. ct6zc1]
MAG TPA: Arc-like DNA binding domain protein [virus sp. ct6zc1]gi|2052883143|tpg|DAF63939.1|Protein
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Last Updated: May 12, 2024