NM_000138.5(FBN1):c.8365A>C (p.Asn2789His) AND Marfan syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004010443.2
Allele description [Variation Report for NM_000138.5(FBN1):c.8365A>C (p.Asn2789His)]
NM_000138.5(FBN1):c.8365A>C (p.Asn2789His)
Condition(s)
- Name:
- Marfan syndrome (MFS)
- Synonyms:
- MARFAN SYNDROME, TYPE I; Marfan syndrome type 1; Marfan's syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007947; MedGen: C0024796; Orphanet: 284963; Orphanet: 558; OMIM: 154700
-
Euriphene amicia voucher ZFMK:BN-SZS-00117 putative Ngg1 interacting factor 3 li...
Euriphene amicia voucher ZFMK:BN-SZS-00117 putative Ngg1 interacting factor 3 like 1 binding protein 1 gene, partial cdsgi|2569196442|gb|OL165916.1|Nucleotide
-
RecName: Full=NAD(P)H-quinone oxidoreductase subunit 3, chloroplastic; AltName: ...
RecName: Full=NAD(P)H-quinone oxidoreductase subunit 3, chloroplastic; AltName: Full=NAD(P)H dehydrogenase subunit 3; AltName: Full=NADH-plastoquinone oxidoreductase subunit 3gi|75305092|sp|Q8WI13.1|NU3C_PSINUProtein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: May 7, 2024