NF1 c.4870A>T ;(p.I1624L)

Variant ID: 17-29652872-A-T

NM_001042492.2(NF1):c.4870A>T;(p.I1624L)

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:

Locus-specific concordance of genomic alterations between tissue and plasma circulating tumor DNA in metastatic melanoma.

Molecular Oncology
Calapre, Leslie L; Giardina, Tindaro T; Robinson, Cleo C; Reid, Anna L AL; Al-Ogaili, Zeyad Z; Pereira, Michelle R MR; McEvoy, Ashleigh C AC; Warburton, Lydia L; Hayward, Nicholas K NK; Khattak, Muhammad A MA; Meniawy, Tarek M TM; Millward, Michael M; Amanuel, Benhur B; Ziman, Melanie M; Gray, Elin S ES
Publication Date: 2019-02

Variant appearance in text: NF1: I1624L
PubMed Link: 30312528
Variant Present in the following documents:
  • Main text
  • MOL2-13-171-s003.xlsx, sheet 1
  • MOL2-13-171-s004.xlsx, sheet 1
  • MOL2-13-171.pdf
View BVdb publication page