NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) AND not specified
- Germline classification:
- Benign/Likely benign (4 submissions)
- Last evaluated:
- Dec 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000434224.20
Allele description [Variation Report for NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser)]
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
RecName: Full=Mannose-binding protein C; Short=MBP-C; AltName: Full=Collectin-1;...
RecName: Full=Mannose-binding protein C; Short=MBP-C; AltName: Full=Collectin-1; AltName: Full=MBP1; AltName: Full=Mannan-binding protein; AltName: Full=Mannose-binding lectin; Flags: Precursorgi|126676|sp|P11226.2|MBL2_HUMANProtein
-
acyl-CoA thioesterase [Pseudomonas viciae]
acyl-CoA thioesterase [Pseudomonas viciae]gi|1613898600|gnl|PRJNA514417|EPZ47 0|gb|QBZ92650.1|Protein
-
formate dehydrogenase [Stutzerimonas decontaminans]
formate dehydrogenase [Stutzerimonas decontaminans]gi|627773771|gnl|PRJNA242326|UIB01_ |gb|AHY42994.1|Protein
-
srfb [Hippoglossus stenolepis]
srfb [Hippoglossus stenolepis]Gene ID:118118918Gene
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Last Updated: Oct 13, 2024