Variant ID: 16-89986420-CC-C

NM_002386.3(MC1R):c.754del;(p.Leu252Serfs*62)

This variant was identified in 1 publication




Publications:


Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families.

Bmc Medical Genetics
B Peric, P Cerkovnik, S Novakovic, J Zgajnar, N Besic, M Hocevar
Publication Date: 2008-09-19

Variant appearance in text: MC1R: 754delC
PubMed Link: 18803811
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000540694.1 n.1101del - non_coding_transcript_exon_variant 2/2 -
ENST00000554623.1 n.799del - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.755del p.Leu252Profs*62 frameshift_variant 1/1 -
ENST00000555427.1 c.755del p.Leu252Profs*62 frameshift_variant 3/4 -
ENST00000556922.1 c.755del p.Leu252Profs*62 frameshift_variant 1/5 -
NM_002386.3 c.755del p.Leu252Profs*62 frameshift_variant 1/1 -