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gene variant
A permanent mutation of the DNA sequence affecting a single gene. Gene mutations can be classified in two ways: germline mutations, which are inherited from the parents and are present in all cells of the body throughout life; and somatic mutations, which occur at a particular time in a person's life and affect only certain cells.
Grammatical category Noun
Field Genetics
Level of specialization High
Definition source EUPATI
Variants
Synonym
Formal
Equivalents

Spanish

mutación génica
Associated concepts
Is accompanied by
DNA
somatic mutation
Examples
For an autosomal recessive disorder to be expressed, an offspring must receive a pathogenic gene variant for that disorder from both parents.
 In relation to the impact of cilia dysregulations in implantation alterations, gene variants identified from blood samples as associated to RPL and primary infertility were related to cilia motility disorders (Maddirevula et al., 2020; Qiao et al., 2016), [...]
Collocations
WITH VERBS
gene variant causes || identifies
WITH ADJECTIVES
dominant | homozygous | pathogenic | spontaneous | specific gene variant

WITH NOUNS
 TERT gene variant