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RET c.644G>T ;(p.R215L)
Variant ID: 10-43600418-G-T
NM_020975.4(
RET
):c.644G>T;(p.R215L)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genetic Landscape of Somatic Mutations in a Large Cohort of Sporadic Medullary Thyroid Carcinomas Studied by Next-Generation Targeted Sequencing.
Iscience
Ciampi, Raffaele R; Romei, Cristina C; Ramone, Teresa T; Prete, Alessandro A; Tacito, Alessia A; Cappagli, Virginia V; Bottici, Valeria V; Viola, David D; Torregrossa, Liborio L; Ugolini, Clara C; Basolo, Fulvio F; Elisei, Rossella R
Publication Date: 2019-10-25
Variant appearance in text: RET: 644G>T; rs748128929
PubMed Link:
31605946
Variant Present in the following documents:
Main text
View BVdb publication page
Twenty-Five Years Experience on RET Genetic Screening on Hereditary MTC: An Update on The Prevalence of Germline RET Mutations.
Genes
Elisei, Rossella R; Tacito, Alessia A; Ramone, Teresa T; Ciampi, Raffaele R; Bottici, Valeria V; Cappagli, Virginia V; Viola, David D; Matrone, Antonio A; Lorusso, Loredana L; Valerio, Laura L; Giani, Carlotta C; Campopiano, Cristina C; Prete, Alessandro A; Agate, Laura L; Molinaro, Eleonora E; Romei, Cristina C
Publication Date: 2019-09-10
Variant appearance in text: RET: R215L
PubMed Link:
31510104
Variant Present in the following documents:
Main text
genes-10-00698.pdf
View BVdb publication page