Placental Genetic Variance

Last uploaded: January 13, 2020
Preferred Name

Point Mutation
Synonyms

G to A transition

point mutations

mutation, transversion

C to G transversion

transversion mutations

G to T transversion

mutations, silent

transition mutation

C to A transversion

C to T transition

transversion mutation

nucleotide transversion abnormality

coding-synon

silent substitutions

mutations, point

silent variation

silent variations

DNA substitution

substitution mutation

mutation, point

T to G transversion

silent substitution

nucleotide transition abnormality

C to T transition at pCpG site

transition mutations

silent mutations

A to G transition

A to T transversion

G to C transversion

mutation, silent

transversion

transversions

T to A transversion

A to C transversion

silent mutation

T to C transition

mutation, transition

delete U

Definitions

An alteration in a DNA sequence caused by the substitution of a single nucleotide for another nucleotide.

ID

https://pat.nichd.nih.gov/patgeneticvariance/GV.03.02.01

Definition

An alteration in a DNA sequence caused by the substitution of a single nucleotide for another nucleotide.

Definition Source

National Cancer Institute Thesaurus (NCIT)

Label

Point Mutation

notation

GV.03.02.01

PAT ID

GV.03.02.01

prefLabel

Point Mutation

Sub Class Of

https://pat.nichd.nih.gov/patgeneticvariance/GV.03.02

Synonyms

G to A transition

point mutations

mutation, transversion

C to G transversion

transversion mutations

G to T transversion

mutations, silent

transition mutation

C to A transversion

C to T transition

transversion mutation

nucleotide transversion abnormality

coding-synon

silent substitutions

mutations, point

silent variation

silent variations

DNA substitution

substitution mutation

mutation, point

T to G transversion

silent substitution

nucleotide transition abnormality

C to T transition at pCpG site

transition mutations

silent mutations

A to G transition

A to T transversion

G to C transversion

mutation, silent

transversion

transversions

T to A transversion

A to C transversion

silent mutation

T to C transition

mutation, transition

delete U

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Mapping To Ontology Source
http://sbmi.uth.tmc.edu/ontology/ochv#17964 OCHV LOOM
http://purl.jp/bio/4/id/200906046637774723 IOBC LOOM
http://purl.obolibrary.org/obo/OMIT_0017724 OMIT LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/471281007 SNOMEDCT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62200 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Point_Mutation BDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0162735 OCHV LOOM
http://purl.obolibrary.org/obo/HIO_0000446 HIO LOOM
http://www.projecthalo.com/aura#Point-Mutation AURA LOOM
http://purl.obolibrary.org/obo/NCIT_C62200 BERO LOOM
http://purl.obolibrary.org/obo/NCIT_C62200 SCDO LOOM
http://purl.obolibrary.org/obo/MESH_D017354 BERO LOOM
http://doe-generated-ontology.com/OntoAD#C0162735 ONTOAD LOOM
http://purl.obolibrary.org/obo/OGI_0000100 OGI LOOM
http://purl.obolibrary.org/obo/OGI_0000100 OGSF LOOM
http://purl.obolibrary.org/obo/PBO_0000511 PBO LOOM
http://localhost/plosthes.2017-1#1246 PLOSTHES LOOM
http://purl.obolibrary.org/obo/SO_1000008 SO LOOM
http://purl.obolibrary.org/obo/SO_1000008 NIFSTD LOOM
http://purl.obolibrary.org/obo/SO_1000008 KTAO LOOM
http://purl.obolibrary.org/obo/SO_1000008 GENO LOOM
http://purl.obolibrary.org/obo/SO_1000008 ERO LOOM
https://w3id.org/codo#VGO_PointMutation CODO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D017354 RH-MESH LOOM
http://purl.bioontology.org/ontology/CSP/1259-9080 CRISP LOOM
http://purl.obolibrary.org/obo/MCBCC_0000317#PointMutation MCBCC LOOM
http://id.nlm.nih.gov/mesh/D017354 MDM LOOM
http://purl.bioontology.org/ontology/MESH/D017354 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#G05.365.590.675 RH-MESH LOOM