FBN1 c.518C>A ;(p.T173N)

Variant ID: 15-48888500-G-T

NM_000138.4(FBN1):c.518C>A;(p.T173N)

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:

Diagnosis and treatment of lipodystrophy: a step-by-step approach.

Journal Of Endocrinological Investigation
Araújo-Vilar, D D; Santini, F F
Publication Date: 2019-01

Variant appearance in text: FBN1: Thr173Asn
PubMed Link: 29704234
Variant Present in the following documents:
  • Main text
View BVdb publication page