Bibliome.ai browser hg19
Search
About
Stats
FAQ
NF1 c.2019C>A ;(p.C673*)
Variant ID: 17-29553470-C-A
NM_001042492.2(
NF1
):c.2019C>A;(p.C673*)
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:
Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients.
Orphanet Journal Of Rare Diseases
Zhu, Guanghui G; Zheng, Yu Y; Liu, Yaoxi Y; Yan, An A; Hu, Zhengmao Z; Yang, Yongjia Y; Xiang, Shiting S; Li, Liping L; Chen, Weijian W; Peng, Yu Y; Zhong, Nanbert N; Mei, Haibo H
Publication Date: 2019-09-18
Variant appearance in text: NF1: Cys673*
PubMed Link:
31533797
Variant Present in the following documents:
Main text
13023_2019_Article_1196.pdf
View BVdb publication page