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MC4R c.643_645del ;(p.M215del)
Variant ID: 18-58038938-ACAT-A
NM_005912.2(
MC4R
):c.643_645del;(p.M215del)
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:
Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.
Nature Medicine
Baron, Morgane M; Maillet, Julie J; Huyvaert, Marlène M; Dechaume, Aurélie A; Boutry, Raphaël R; Loiselle, Hélène H; Durand, Emmanuelle E; Toussaint, Bénédicte B; Vaillant, Emmanuel E; Philippe, Julien J; Thomas, Jérémy J; Ghulam, Amjad A; Franc, Sylvia S; Charpentier, Guillaume G; Borys, Jean-Michel JM; Lévy-Marchal, Claire C; Tauber, Maïthé M; Scharfmann, Raphaël R; Weill, Jacques J; Aubert, Cécile C; Kerr-Conte, Julie J; Pattou, François F; Roussel, Ronan R; Balkau, Beverley B; Marre, Michel M; Boissel, Mathilde M; Derhourhi, Mehdi M; Gaget, Stefan S; Canouil, Mickaël M; Froguel, Philippe P; Bonnefond, Amélie A
Publication Date: 2019-11
Variant appearance in text: MC4R: M215del
PubMed Link:
31700171
Variant Present in the following documents:
EMS84473-supplement-Supplementary_Tables.pdf
View BVdb publication page