NM_000092.5(COL4A4):c.1751G>A (p.Gly584Glu) AND Benign familial hematuria
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 30, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002274281.1
Allele description [Variation Report for NM_000092.5(COL4A4):c.1751G>A (p.Gly584Glu)]
NM_000092.5(COL4A4):c.1751G>A (p.Gly584Glu)
Condition(s)
-
NADH dehydrogenase subunit 6 (mitochondrion) [Anabarilius duoyiheensis]
NADH dehydrogenase subunit 6 (mitochondrion) [Anabarilius duoyiheensis]gi|2328387688|ref|YP_010555773.1|Protein
-
general transcription factor 3C polypeptide 6 isoform X1 [Corvus cornix cornix]
general transcription factor 3C polypeptide 6 isoform X1 [Corvus cornix cornix]gi|1987689916|ref|XP_039425350.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Feb 20, 2024