System ID: 203

Gene: IHH

Chromosome: 7

Variant Type: deletion, gross (>20)

Deleterious: yes

Year Discovered: 2016

Is Defect?: Yes

Mode of Inheitance: Autosomal Semi-Dominant

Reference Sequence:

Variant Source: Naturally occurring variant

Genomic or Mitochondrial: g.21798705_21810600del

Coding DNA Sequence or Genomic DNA Sequence:

Protein Sequence:

Reference Website: Visit website

Verbal Description: 896bp large deletion region (chr7: 21798705-21810600) covering the entire Indian hedgehog (IHH) gene""

Trait: Disease -> Disease: Achondroplasia

Breeds: Chinese Xingyi