NM_000138.5(FBN1):c.6888G>A (p.Gln2296=) AND Marfan syndrome
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000292617.13
Allele description [Variation Report for NM_000138.5(FBN1):c.6888G>A (p.Gln2296=)]
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=)
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
-
Profile neighbors for GEO Profiles (Select 57808499) (9)
GEO Profiles
-
Chromosome neighbors for GEO Profiles (Select 57808499) (20)
GEO Profiles
-
PHYHIPL phytanoyl-CoA 2-hydroxylase interacting protein like [Homo sapiens]
PHYHIPL phytanoyl-CoA 2-hydroxylase interacting protein like [Homo sapiens]Gene ID:84457Gene
-
Gene Links for GEO Profiles (Select 65179678) (1)
Gene
-
KCNMB2-AS1 KCNMB2 antisense RNA 1 [Homo sapiens]
KCNMB2-AS1 KCNMB2 antisense RNA 1 [Homo sapiens]Gene ID:104797538Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 26, 2024