NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp) AND Marfan syndrome
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Dec 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001839446.11
Allele description [Variation Report for NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp)]
NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp)
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
-
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 isoform X2 [Chl...
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 isoform X2 [Chlorocebus sabaeus]gi|635063855|ref|XP_007965992.1|Protein
-
Homo sapiens capping protein (actin filament) muscle Z-line, alpha 2, mRNA (cDNA...
Homo sapiens capping protein (actin filament) muscle Z-line, alpha 2, mRNA (cDNA clone IMAGE:4070966), with apparent retained introngi|16358998|gb|BC015963.1|Nucleotide
-
Homo sapiens microfibril associated protein 5 (MFAP5), transcript variant 6, non...
Homo sapiens microfibril associated protein 5 (MFAP5), transcript variant 6, non-coding RNAgi|1701108641|ref|NR_123733.2|Nucleotide
-
chalcone synthase, partial [Cardamine maritima]
chalcone synthase, partial [Cardamine maritima]gi|215513674|gb|ACJ68494.1|Protein
-
chalcone synthase, partial [Cardamine montenegrina]
chalcone synthase, partial [Cardamine montenegrina]gi|215513692|gb|ACJ68503.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024