FBN1 c.4787G>C ;(p.R1596P)

Variant ID: 15-48758016-C-G

NM_000138.4(FBN1):c.4787G>C;(p.R1596P)

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:

A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.

Human Molecular Genetics
Jensen, Sacha A SA; Iqbal, Sarah S; Bulsiewicz, Alicja A; Handford, Penny A PA
Publication Date: 2015-08-01

Variant appearance in text: FBN1: R1596P
PubMed Link: 25979247
Variant Present in the following documents:
  • Main text
  • ddv181.pdf
View BVdb publication page