KIT c.1908C>T ;(p.A636=)

Variant ID: 4-55594205-C-T

NM_000222.2(KIT):c.1908C>T;(p.A636=)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Frequent KIT mutations in skin lesions of patients with BRAF wild-type Langerhans cell histiocytosis.

Virchows Archiv : An International Journal Of Pathology
Tóth, Béla B; Kiss, Norbert N; Hársing, Judit J; Kárpáti, Sarolta S; Csomor, Judit J; Bödör, Csaba C; Tímár, József J; Rásó, Erzsébet E
Publication Date: 2020-11

Variant appearance in text: KIT: A636A
PubMed Link: 32372223
Variant Present in the following documents:
  • Main text
  • 428_2020_Article_2820.pdf
View BVdb publication page


Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: KIT: A636A
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page