FBN1 c.5032T>G ;(p.Y1678D)

Variant ID: 15-48756129-A-C

NM_000138.4(FBN1):c.5032T>G;(p.Y1678D)

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:

Mutation screening in the FBN1 gene responsible for Marfan syndrome and related disorder in Chinese families.

Molecular Genetics & Genomic Medicine
Gong, Bo B; Yang, Lan L; Wang, Qingwei Q; Ye, Zimeng Z; Guo, Xiaoxin X; Yang, Chen C; Hao, Fang F; Shi, Yi Y; Huang, Yi Y; Qu, Chao C; Yang, Zhenglin Z
Publication Date: 2019-04

Variant appearance in text: FBN1: 5032T>G; Y1678D
PubMed Link: 30838813
Variant Present in the following documents:
  • Main text
View BVdb publication page