NM_000138.5(FBN1):c.1007G>A (p.Cys336Tyr) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001961632.4
Allele description [Variation Report for NM_000138.5(FBN1):c.1007G>A (p.Cys336Tyr)]
NM_000138.5(FBN1):c.1007G>A (p.Cys336Tyr)
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
-
galectin-9 isoform 2 [Mus musculus]
galectin-9 isoform 2 [Mus musculus]gi|226531139|ref|NP_001152773.1|Protein
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cytochrome b (mitochondrion) [Thraupis sayaca]
cytochrome b (mitochondrion) [Thraupis sayaca]gi|2317753560|gb|UYG47232.1|Protein
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Giardia lamblia P15 contig9, whole genome shotgun sequence
Giardia lamblia P15 contig9, whole genome shotgun sequencegi|308161187|gb|ACVC01000123.1||gnl ACVC01|contig9Nucleotide
-
Mus musculus golgi phosphoprotein 4 (Golph4), mRNA
Mus musculus golgi phosphoprotein 4 (Golph4), mRNAgi|60097937|ref|NM_175193.4|Nucleotide
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Vibrio parahaemolyticus S137 Contig466, whole genome shotgun sequence
Vibrio parahaemolyticus S137 Contig466, whole genome shotgun sequencegi|540191209|gb|AWIP01000466.1||gnl AWIP01|Contig466Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024