Variant ID: 16-89985997-GC-CT

NM_002386.3(MC1R):c.331_332delinsCT;(p.Ala111Leu)

This variant was identified in 1 publication




Publications:


Molecular genetics of human pigmentation diversity.

Human Molecular Genetics
RA Sturm
Publication Date: 2009-04-15

Variant appearance in text: MC1R: Ala111Leu
PubMed Link: 19297406
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000540694.1 n.677_678delinsCT - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.331_332delinsCT p.Ala111Leu missense_variant 1/1 -
ENST00000555427.1 c.331_332delinsCT p.Ala111Leu missense_variant 3/4 -
ENST00000556922.1 c.331_332delinsCT p.Ala111Leu missense_variant 1/5 -
NM_002386.3 c.331_332delinsCT p.Ala111Leu missense_variant 1/1 -