NM_001130021.3(ATP6V0A1):c.1340G>A (p.Arg447Gln) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 22, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000984719.2
Allele description [Variation Report for NM_001130021.3(ATP6V0A1):c.1340G>A (p.Arg447Gln)]
NM_001130021.3(ATP6V0A1):c.1340G>A (p.Arg447Gln)
Condition(s)
- Name:
- Esophageal atresia
- Synonyms:
- Esophageal atresia (disease)
- Identifiers:
- MONDO: MONDO:0001044; MeSH: D004933; MedGen: C0014850; Human Phenotype Ontology: HP:0002032
- Name:
- Pyloric stenosis
- Synonyms:
- Pyloric stenosis (disease)
- Identifiers:
- MONDO: MONDO:0001561; MedGen: C0034194
-
tumor protein 63 isoform X5 [Gallus gallus]
tumor protein 63 isoform X5 [Gallus gallus]gi|2201819065|ref|XP_046779491.1|Protein
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Last Updated: Feb 14, 2024