NM_006329.4(FBLN5):c.1087G>A (p.Ala363Thr) AND Macular degeneration, age-related, 3
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Dec 18, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000005816.8
Allele description [Variation Report for NM_006329.4(FBLN5):c.1087G>A (p.Ala363Thr)]
NM_006329.4(FBLN5):c.1087G>A (p.Ala363Thr)
Condition(s)
-
Danio rerio proteasome (prosome, macropain) assembly chaperone 1 (psmg1), mRNA
Danio rerio proteasome (prosome, macropain) assembly chaperone 1 (psmg1), mRNAgi|50540497|ref|NM_001002714.1|Nucleotide
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Last Updated: Sep 29, 2024