Chromosome: | chr18 |
Position (hg19): | 21113337 |
Reference: | CAG |
Observed: | C |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | frameshift_variant |
cDNA change: | c.3734_3735delCT |
AA change: | p.Pro1245fs |
Exon/intron: | 24 |
dbSNP id: | |
1000g AF: | |
ExAC AF: | 0.000008236 |
ESP6500ea AF: | 0.0001 |
ESP6500aa AF: | 0 |
Classification: | 4 (likely pathogenic) |
# patients: | 1 |
# controls: | 0 |
Sources: | Human_Gene_Mutation_Database Tarugi_et_al._(2002)_J_Lipid_Res_43:1908-1919 |