NF1 c.1975_1976del ;(p.R659Efs*10)

Variant ID: 17-29552242-CCG-C

NM_001042492.2(NF1):c.1975_1976del;(p.R659Efs*10)

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:

Novel mutations in one allele in a Chinese family with neurofibromatosis type 1: Including a complex insertion-deletion mutation.

The Journal Of Dermatology
Zhu, Lude L; Shi, Lei L; Wang, Bo B; Bi, Mingye M; Pu, Jie J; Zhang, Linglin L; Zhang, Yunfeng Y; Wang, Xiuli X; Zhang, Guolong G
Publication Date: 2016-11

Variant appearance in text: NF1: 1975_1976del
PubMed Link: 27374410
Variant Present in the following documents:
  • Main text
View BVdb publication page