FBN1 c.6554T>C ;(p.I2185T)

Variant ID: 15-48726853-A-G

NM_000138.4(FBN1):c.6554T>C;(p.I2185T)

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:

FBN1 Coding Variants and Nonsyndromic Aortic Disease.

Circulation. Genomic And Precision Medicine
Damrauer, Scott M SM; Hardie, Kara K; Kember, Rachel L RL; Judy, Renae R; Birtwell, David D; Williams, Heather H; Rader, Daniel J DJ; Pyeritz, Reed E RE
Publication Date: 2019-06

Variant appearance in text: FBN1: I2185T
PubMed Link: 31211626
Variant Present in the following documents:
  • Main text
View BVdb publication page