NF1 c.278del ;(p.C93Ffs*10)

Variant ID: 17-29486101-TG-T

NM_001042492.2(NF1):c.278del;(p.C93Ffs*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:

A study of splicing mutations in disorders of sex development.

Scientific Reports
de Calais, Flavia Leme FL; Smith, Lindsay D LD; Raponi, Michela M; Maciel-Guerra, Andréa Trevas AT; Guerra-Junior, Gil G; de Mello, Maricilda Palandi MP; Baralle, Diana D
Publication Date: 2017-11-24

Variant appearance in text: NF1: 278delG
PubMed Link: 29176693
Variant Present in the following documents:
  • Main text
View BVdb publication page