NM_000138.5(FBN1):c.6141C>T (p.Ser2047=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001426461.6
Allele description
NM_000138.5(FBN1):c.6141C>T (p.Ser2047=)
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
-
Microtus oregoni isolate MIOR12 000079F_169, whole genome shotgun sequence
Microtus oregoni isolate MIOR12 000079F_169, whole genome shotgun sequencegi|2029779524|gb|JAGKIF010001664.1| WGS:JAGKIF01|000079F_169Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024