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BTBD1 c.614A>G ;(p.K205R)
Variant ID: 15-83718875-T-C
NM_025238.3(
BTBD1
):c.614A>G;(p.K205R)
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 variants in African-American and Hispanic patients with breast cancer.
Oncology Letters
Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV
Publication Date: 2023-02
Variant appearance in text: BTBD1: 614A>G; K205R
PubMed Link:
36644153
Variant Present in the following documents:
Supplementary_Data5.xlsx, sheet 2
Supplementary_Data5.xlsx, sheet 1
View BVdb publication page
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.
Immunity & Ageing : I & A
Villa, Francesco F; MaciÄ…g, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA
Publication Date: 2014
Variant appearance in text: BTBD1: K205R; rs116738920
PubMed Link:
25469153
Variant Present in the following documents:
12979_2014_19_MOESM2_ESM.xls, sheet 1
View BVdb publication page