Variant ID: 16-89986345-AG-CT

NM_002386.3(MC1R):c.679_680inv;(p.Arg227Leu)

This variant was identified in 1 publication




Publications:


ASSESSMENT OF MC1R AND α-MSH GENE SEQUENCES IN IRANIAN VITILIGO PATIENTS.

Indian Journal Of Dermatology
M Eskandani, S Hasannia, S Vandghanooni, N Pirooznia, J Golchai
Publication Date: 2010-10

Variant appearance in text: MC1R: Arg227Leu
PubMed Link: 21430882
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.1025_1026inv - non_coding_transcript_exon_variant 2/2 -
ENST00000554623.1 n.874_875inv - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.679_680inv p.Arg227Leu missense_variant 1/1 -
ENST00000555427.1 c.679_680inv p.Arg227Leu missense_variant 3/4 -
ENST00000556922.1 c.679_680inv p.Arg227Leu missense_variant 1/5 -
NM_002386.3 c.679_680inv p.Arg227Leu missense_variant 1/1 -