NM_033380.3(COL4A5):c.716G>A (p.Gly239Glu) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003560271.2
Allele description [Variation Report for NM_033380.3(COL4A5):c.716G>A (p.Gly239Glu)]
NM_033380.3(COL4A5):c.716G>A (p.Gly239Glu)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
V-set domain-containing T-cell activation inhibitor 1 [Dasypus novemcinctus]
V-set domain-containing T-cell activation inhibitor 1 [Dasypus novemcinctus]gi|488529751|ref|XP_004456655.1|Protein
-
1-aminocyclopropane-1-carboxylate oxidase-like [Solanum dulcamara]
1-aminocyclopropane-1-carboxylate oxidase-like [Solanum dulcamara]gi|2501245921|ref|XP_055806020.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024