DNA Alteration Details
System ID: 215
Gene: ABCA1
Chromosome: Z
Variant Type: missense
Deleterious: yes
Year Discovered: 2002
Is Defect?: Yes
Mode of Inheitance: Z-linked Recessive
Variant Source: Naturally occurring variant
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Description: a genetic change or mutation in the coding DNA sequence of a gene, where a guanine (G) nucleotide has been replaced by an adenine (A) at position 265, due to the mutation.
Trait: Disease -> Disease: Analphalipoproteinaemia