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FBN1 c.316C>T ;(p.Q106*)
Variant ID: 15-48902955-G-A
NM_000138.4(
FBN1
):c.316C>T;(p.Q106*)
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: FBN1: 316C>T
PubMed Link:
36644153
Variant Present in the following documents:
Supplementary_Data5.xlsx, sheet 1
View BVdb publication page
Analysis of the contribution of 129 candidate genes to thoracic aortic aneurysm or dissection of a mixed cohort of sporadic and familial cases in South China.
American Journal Of Translational Research
Li, Ying Y; Fang, Miaoxian M; Yang, Jue J; Yu, Changjiang C; Kuang, Juntao J; Sun, Tucheng T; Fan, Ruixin R
Publication Date: 2021
Variant appearance in text: FBN1: 316C>T; Gln106Ter
PubMed Link:
34150014
Variant Present in the following documents:
Main text
View BVdb publication page