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HR c.1184_1185delinsAA ;(p.R395Q)
Variant ID: 8-21984770-GC-TT
NM_005144.4(
HR
):c.1184_1185delinsAA;(p.R395Q)
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:
Investigating DNA methylation as a potential mediator between pigmentation genes, pigmentary traits and skin cancer.
Pigment Cell & Melanoma Research
Bonilla, Carolina C; Bertoni, Bernardo B; Min, Josine L JL; Hemani, Gibran G; , ; Elliott, Hannah R HR
Publication Date: 2021-09
Variant appearance in text: HR: Arg395Gln
PubMed Link:
33248005
Variant Present in the following documents:
Main text
View BVdb publication page