NM_001458.5(FLNC):c.635A>G (p.Asn212Ser) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 21, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002360787.2
Allele description [Variation Report for NM_001458.5(FLNC):c.635A>G (p.Asn212Ser)]
NM_001458.5(FLNC):c.635A>G (p.Asn212Ser)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
RecName: Full=Glucan endo-1,3-beta-glucosidase; AltName: Full=(1->3)-beta-glucan...
RecName: Full=Glucan endo-1,3-beta-glucosidase; AltName: Full=(1->3)-beta-glucan endohydrolase; Short=(1->3)-beta-glucanase; AltName: Full=Beta-1,3-endoglucanase; Flags: Precursorgi|119009|sp|P23433.1|E13D_TOBACProtein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024