NM_018087.5(NDC1):c.1106G>A (p.Cys369Tyr) AND multiple conditions
- 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:
- RCV000844758.3
Allele description [Variation Report for NM_018087.5(NDC1):c.1106G>A (p.Cys369Tyr)]
NM_018087.5(NDC1):c.1106G>A (p.Cys369Tyr)
Condition(s)
- Name:
- Global developmental delay (DD)
- Identifiers:
- MedGen: C0557874; Human Phenotype Ontology: HP:0001263
- Name:
- Retinal disorder
- Synonyms:
- Retinopathy; Retinopathies; Retinal Diseases
- Identifiers:
- MONDO: MONDO:0005283; MedGen: C0035309; Human Phenotype Ontology: HP:0000488
- Name:
- Cleft palate
- Identifiers:
- MONDO: MONDO:0016064; MedGen: C2981150; Human Phenotype Ontology: HP:0000175
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Homo sapiens TTK protein kinase (TTK), transcript variant 2, mRNA
Homo sapiens TTK protein kinase (TTK), transcript variant 2, mRNAgi|1890341950|ref|NM_001166691.2|Nucleotide
-
nucleoporin 155, partial [Artedius corallinus]
nucleoporin 155, partial [Artedius corallinus]gi|806393442|gb|AKB92295.1|Protein
-
Uncultured bacterium clone OTU_3989 16S ribosomal RNA gene, partial sequence
Uncultured bacterium clone OTU_3989 16S ribosomal RNA gene, partial sequencegi|1540458573|gb|MK325173.1|Nucleotide
-
Uncultured Ehrlichia sp. clone OTU_4011 16S ribosomal RNA gene, partial sequence
Uncultured Ehrlichia sp. clone OTU_4011 16S ribosomal RNA gene, partial sequencegi|1540458602|gb|MK325184.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024