NM_000138.5(FBN1):c.6497-14_6497-12del AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 11, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003035580.3
Allele description [Variation Report for NM_000138.5(FBN1):c.6497-14_6497-12del]
NM_000138.5(FBN1):c.6497-14_6497-12del
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
-
PREDICTED: Ictidomys tridecemlineatus ATPase family AAA domain containing 2B (At...
PREDICTED: Ictidomys tridecemlineatus ATPase family AAA domain containing 2B (Atad2b), transcript variant X2, mRNAgi|2015649430|ref|XM_021724653.2|Nucleotide
-
Arabidopsis thaliana timeless family protein (ATIM), mRNA
Arabidopsis thaliana timeless family protein (ATIM), mRNAgi|1063740940|ref|NM_124669.3|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024