NM_000138.5(FBN1):c.2243del (p.Cys748fs) AND Marfan syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 7, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000663523.1
Allele description [Variation Report for NM_000138.5(FBN1):c.2243del (p.Cys748fs)]
NM_000138.5(FBN1):c.2243del (p.Cys748fs)
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
-
Xanthomonas sp. SHU 166 767, whole genome shotgun sequence
Xanthomonas sp. SHU 166 767, whole genome shotgun sequencegi|484184519|ref|NZ_AQOJ01000767.1| WGS:NZ_AQOJ01|767Nucleotide
-
Xanthomonas sp. SHU 166 692, whole genome shotgun sequence
Xanthomonas sp. SHU 166 692, whole genome shotgun sequencegi|484184220|ref|NZ_AQOJ01000692.1| WGS:NZ_AQOJ01|692Nucleotide
-
Xanthomonas sp. SHU 166 733, whole genome shotgun sequence
Xanthomonas sp. SHU 166 733, whole genome shotgun sequencegi|484184385|ref|NZ_AQOJ01000733.1| WGS:NZ_AQOJ01|733Nucleotide
-
Xanthomonas sp. SHU 166 769, whole genome shotgun sequence
Xanthomonas sp. SHU 166 769, whole genome shotgun sequencegi|484184528|ref|NZ_AQOJ01000769.1| WGS:NZ_AQOJ01|769Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Dec 11, 2022