Chromosome: | chr18 |
Position (hg19): | 21115459 |
Reference: | C |
Observed: | T |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.3451G>A |
AA change: | p.Ala1151Thr |
Exon/intron: | 22 |
dbSNP id: | rs765729815 |
1000g AF: | |
ExAC AF: | 0.000008237 |
ESP6500ea AF: | 0.0002 |
ESP6500aa AF: | 0.0059 |
Classification: | 4 (likely pathogenic) |
# patients: | 1 |
# controls: | 0 |
Sources: | Garver_WS._J_Lipid_Res_2010:_51:_406_�_419 http://www.ncbi.nlm.nih.gov/pubmed/19744920 |