DNA Alteration Details

System ID: 216

Gene: ACAN

Chromosome: 10

Variant Type: nonsense (stop-gain)

Deleterious: yes

Year Discovered: 1994

Is Defect?: Yes

Mode of Inheitance: Autosomal

Reference Sequence: GRCg6a

Variant Source: Naturally occurring variant

Genomic or Mitochondrial: g.13502829C>A

Coding DNA Sequence or Genomic DNA Sequence: c.4537G>T

Protein Sequence: p.(E1513*)

Reference Website: Visit website

Verbal Description: a genetic change or mutation in the coding DNA sequence of a gene, where a guanine (G) nucleotide has been replaced by an thymine (T) at position 4537, due to the mutation.

Trait: Disease -> Disease: Nanomelia

Breeds: NA