FBN1 c.223C>A ;(p.P75T)

Variant ID: 15-48905231-G-T

NM_000138.4(FBN1):c.223C>A;(p.P75T)

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:

De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.

American Journal Of Medical Genetics. Part A
Garg, Abhimanyu A; Xing, Chao C
Publication Date: 2014-05

Variant appearance in text: FBN1: Pro75Thr
PubMed Link: 24665001
Variant Present in the following documents:
  • Main text
View BVdb publication page