NM_000138.5(FBN1):c.2921G>A (p.Arg974His) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001797974.1
Allele description [Variation Report for NM_000138.5(FBN1):c.2921G>A (p.Arg974His)]
NM_000138.5(FBN1):c.2921G>A (p.Arg974His)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
protein sprouty homolog 1 [Homo sapiens]
protein sprouty homolog 1 [Homo sapiens]gi|384475544|ref|NP_001244967.1|Protein
-
catenin beta-1 isoform X1 [Xenopus laevis]
catenin beta-1 isoform X1 [Xenopus laevis]gi|1069363047|ref|XP_018121889.1|Protein
-
1746114[uid] (1)
Taxonomy
-
Sucrose-6-phosphate hydrolase [Capnocytophaga sputigena]
Sucrose-6-phosphate hydrolase [Capnocytophaga sputigena]gi|1540192868|emb|VEI56125.1|Protein
-
unnamed protein product [Mus musculus]
unnamed protein product [Mus musculus]gi|74212210|dbj|BAE40264.1|Protein
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Last Updated: Sep 29, 2024