NM_033380.3(COL4A5):c.1397G>A (p.Gly466Glu) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 5, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001257274.10
Allele description [Variation Report for NM_033380.3(COL4A5):c.1397G>A (p.Gly466Glu)]
NM_033380.3(COL4A5):c.1397G>A (p.Gly466Glu)
Condition(s)
- Name:
- Hematuria
- Identifiers:
- MedGen: C0018965; Human Phenotype Ontology: HP:0000790
- Name:
- Microscopic hematuria
- Synonyms:
- Microhematuria
- Identifiers:
- MedGen: C0239937; Human Phenotype Ontology: HP:0002907
-
glycosyl transferase [Prevotella intermedia]
glycosyl transferase [Prevotella intermedia]gi|1276667392|gnl|PRJNA416411|CTM63 0|gb|ATV28954.1|Protein
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hypothetical protein KNP414_04748 [Paenibacillus mucilaginosus KNP414]
hypothetical protein KNP414_04748 [Paenibacillus mucilaginosus KNP414]gi|336300175|gnl|HuxfZSTU|KNP414_04 b|AEI43278.1|Protein
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Last Updated: Oct 8, 2024