DNA Alteration Details

System ID: 224

Gene: GNB3

Chromosome: 1

Variant Type: deletion, small (<=20)

Deleterious: yes

Year Discovered: 2006

Is Defect?: Yes

Mode of Inheitance: Autosomal Recessive

Reference Sequence:

Variant Source: Naturally occurring variant

Genomic or Mitochondrial:

Coding DNA Sequence or Genomic DNA Sequence: c.D153del

Protein Sequence:

Reference Website: Visit website

Verbal Description: a deletion of a single nucleotide from the coding DNA sequence of a gene, resulting in the loss of an aspartic acid (D) residue at position 153 of the protein.

Trait: Disease -> Disease: Retinopathy globe enlarged

Breeds: NA