Variant ID: 16-89986547-A-C


This variant was identified in 1 publication


Next-generation sequence analysis of genes associated with obesity and nonalcoholic fatty liver disease-related cirrhosis in extreme obesity.

Human Heredity
GS Gerhard, X Chu, GC Wood, GM Gerhard, P Benotti, AT Petrick, J Gabrielsen, WE Strodel, CD Still, G Argyropoulos
Publication Date: 2013

Variant appearance in text: MC1R: D294A
PubMed Link: 24081230
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.1227A>C - non_coding_transcript_exon_variant 2/2 -
ENST00000554623.1 n.673T>G - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.881A>C p.Asp294Ala missense_variant 1/1 -
ENST00000555427.1 c.881A>C p.Asp294Ala missense_variant 3/4 -
ENST00000556922.1 c.881A>C p.Asp294Ala missense_variant 1/5 -
NM_002386.3 c.881A>C p.Asp294Ala missense_variant 1/1 -