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NF1 c.6533del ;(p.F2178Sfs*22)
Variant ID: 17-29664489-CT-C
NM_001042492.2(
NF1
):c.6533del;(p.F2178Sfs*22)
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 novel neurofibromatosis type 1 (NF1) mutation in a patient with NF1 and pheochromocytoma.
The Korean Journal Of Internal Medicine
Seo, Yoorim Y; Jeong, Yeonjeong Y; Kim, Dong Yoon DY; Choi, Kyueun K; Kim, Eun Sook ES; Moon, Sung Dae SD; Han, Je Ho JH
Publication Date: 2018-01
Variant appearance in text: NF1: 6533delT
PubMed Link:
29172408
Variant Present in the following documents:
Main text
View BVdb publication page