DNA Alteration Details

System ID: 185

Gene: C1H12ORF23

Chromosome: 1

Variant Type: nonsense (stop-gain)

Deleterious: yes

Year Discovered: 2018

Is Defect?: Yes

Mode of Inheitance: Autosomal Recessive

Reference Sequence: GRCg6a

Variant Source: Naturally occurring variant

Genomic or Mitochondrial: g.53638233C>T

Coding DNA Sequence or Genomic DNA Sequence: c.433G>A

Protein Sequence: p.(W59*)

Reference Website: Visit website

Verbal Description: a single nucleotide change has ocurred in the genomic sequence at position 53,638,233 on chromosome 1. The original nucleotide C (cytosine) at this position is replaced by T (thymine).

Trait: Disease -> Disease: Dwarfism

Breeds: Leghorn