: Public Class
Created: 10/16/2008 4:20:43 PM
Modified: 7/3/2019 8:13:29 PM
DEFINITION:<br/>The difference(s) in the nucleotide sequence of a biologic entity relative to a reference sequence. <br/><br/>EXAMPLE(S):<br/>A single nucleotide change from adenosine to cytosine, of the CAG trinucleotides repeats in the Huntington gene. <br/>The BRCA1 gene can contain an insertion at position 5382, BRCA1 gene.c.5382insC, or a single nucleotide polymorphism, at position 61 converting a to a G, 61C-#gt;G.<br/><br/>OTHER NAME(S):<br/><br/>NOTE(S):<br/>
Public ID
Notes: DEFINITION:<br/>A unique symbol that establishes the identity of the genetic variation.  <br/><br/>EXAMPLE(S):<br/>An rs identifier in dbSNP, a mutation identifier in COSMIC, or a variant identifier in OMIM<br/><br/>OTHER NAME(S):<br/><br/>NOTE(S):<br/>
Tag Value
Map:LSDAMv2.2.3Plus GeneticVariation
Object Type Connection Direction Notes
NucleicAcidSequenceFeature Class Generalization To DESCRIPTION: Each GeneticVariation always specializes one NucleicAcidSequenceFeature. Each NucleicAcidSequenceFeature might be specialized by one GeneticVariation. DEFINITION: EXAMPLE(S): OTHER NAME(S): NOTE(S):
SingleNucleotidePolymorphism Class Generalization From DESCRIPTION: Each SingleNucleotidePolymorphism always specializes one GeneticVariation. Each GeneticVariation might be specialized by one SingleNucleotidePolymorphism. DEFINITION: EXAMPLE(S): OTHER NAME(S): NOTE(S):