FBN1 c.7489del ;(p.Q2497Sfs*185)

Variant ID: 15-48714229-TG-T

NM_000138.4(FBN1):c.7489del;(p.Q2497Sfs*185)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China.

Molecular Genetics & Genomic Medicine
Li, Jinjie J; Yang, Liu L; Diao, Yanjun Y; Zhou, Lei L; Xin, Yijuan Y; Jiang, Liqing L; Li, Rui R; Wang, Juan J; Duan, Weixun W; Liu, Jiayun J
Publication Date: 2021-10

Variant appearance in text: FBN1: 7489delC; Gln2497fs
PubMed Link: 34498425
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1800.pdf
View BVdb publication page


Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China.

Molecular Genetics & Genomic Medicine
Li, Jinjie J; Yang, Liu L; Diao, Yanjun Y; Zhou, Lei L; Xin, Yijuan Y; Jiang, Liqing L; Li, Rui R; Wang, Juan J; Duan, Weixun W; Liu, Jiayun J
Publication Date: 2021-10

Variant appearance in text: FBN1: 7489delC; Gln2497fs
PubMed Link: 34498425
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1800.pdf
View BVdb publication page