FBN1 c.3928G>A ;(p.G1310S)

Variant ID: 15-48773888-C-T

NM_000138.4(FBN1):c.3928G>A;(p.G1310S)

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:

Novel mutation in FBN1 causes ectopia lentis and varicose great saphenous vein in one Chinese autosomal dominant family.

Molecular Vision
Fu, Qing Q; Liu, Peng P; Lu, Qingsheng Q; Wang, Feng F; Wang, Hui H; Shen, Wei W; Xu, Fei F; Liu, Lin L; Sergeev, Yuri V YV; Sui, Ruifang R
Publication Date: 2014

Variant appearance in text: FBN1: 3928G>A; G1310S
PubMed Link: 24940037
Variant Present in the following documents:
  • Main text
  • mv-v20-812.pdf
View BVdb publication page