Chromosome: | chr18 |
Position (hg19): | 21115449 |
Reference: | A |
Observed: | T |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | stop_gained |
cDNA change: | c.3461T>A |
AA change: | p.Leu1154* |
Exon/intron: | 22 |
dbSNP id: | |
1000g AF: | |
ExAC AF: | 0.00002471 |
ESP6500ea AF: | 0.0002 |
ESP6500aa AF: | 0.0059 |
Classification: | 5 (pathogenic) |
# patients: | 1 |
# controls: | 0 |
Sources: | Human_Gene_Mutation_Database Millat_et_al_(2005)_Mol_Genet_Metab_86_220 |