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FBN1 c.5494C>T ;(p.R1832C)
Variant ID: 15-48744810-G-A
NM_000138.4(
FBN1
):c.5494C>T;(p.R1832C)
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:
Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1.
Molecular Vision
Deng, Ting T; Dong, Bing B; Zhang, Xiaohui X; Dai, Hanjun H; Li, Yang Y
Publication Date: 2008-06-30
Variant appearance in text: FBN1: R1832C
PubMed Link:
18615205
Variant Present in the following documents:
Main text
View BVdb publication page