FBN1 c.1495T>A ;(p.C499S)

Variant ID: 15-48805839-A-T

NM_000138.4(FBN1):c.1495T>A;(p.C499S)

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:

Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders.

International Journal Of Ophthalmology
Singh, Mahavir M; Tyagi, Suresh C SC
Publication Date: 2018

Variant appearance in text: FBN1: C499S
PubMed Link: 29376001
Variant Present in the following documents:
  • Main text
View BVdb publication page