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MC1R c.469_470delinsGA ;(p.T157D)
Variant ID: 16-89986135-AC-GA
NM_002386.3(
MC1R
):c.469_470delinsGA;(p.T157D)
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:
MC1R, the cAMP pathway, and the response to solar UV: extending the horizon beyond pigmentation.
Pigment Cell & Melanoma Research
García-Borrón, Jose C JC; Abdel-Malek, Zalfa Z; Jiménez-Cervantes, Celia C
Publication Date: 2014-09
Variant appearance in text: MC1R: T157D
PubMed Link:
24807163
Variant Present in the following documents:
Main text
View BVdb publication page