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KIT c.1996_1997delinsCT ;(p.T666L)
Variant ID: 4-55595506-AC-CT
NM_000222.2(
KIT
):c.1996_1997delinsCT;(p.T666L)
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:
Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.
Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09
Variant appearance in text: KIT: T666L
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Tumor genetic heterogeneity analysis of chronic sun-damaged melanoma.
Pigment Cell & Melanoma Research
Sanna, Adriana A; Harbst, Katja K; Johansson, Iva I; Christensen, Gustav G; Lauss, Martin M; Mitra, Shamik S; Rosengren, Frida F; Häkkinen, Jari J; Vallon-Christersson, Johan J; Olsson, Håkan H; Ingvar, Åsa Å; Isaksson, Karolin K; Ingvar, Christian C; Nielsen, Kari K; Jönsson, Göran G
Publication Date: 2020-05
Variant appearance in text: KIT: T666L
PubMed Link:
31811783
Variant Present in the following documents:
Main text
PCMR-33-480.pdf
View BVdb publication page