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MC1R c.705T>A ;(p.F235L)
Variant ID: 16-89986371-T-A
NM_002386.3(
MC1R
):c.705T>A;(p.F235L)
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:
Genetic profiling of a rare condition: co-occurrence of albinism and multiple primary melanoma in a Caucasian family.
Oncotarget
De Summa, Simona S; Guida, Michele M; Tommasi, Stefania S; Strippoli, Sabino S; Pellegrini, Cristina C; Fargnoli, Maria Concetta MC; Pilato, Brunella B; Natalicchio, Iole I; Guida, Gabriella G; Pinto, Rosamaria R
Publication Date: 2017-05-02
Variant appearance in text: MC1R: Phe235Leu
PubMed Link:
27776349
Variant Present in the following documents:
Main text
oncotarget-08-29751.pdf
View BVdb publication page