Chromosome: | chr18 |
Position (hg19): | 21136344 |
Reference: | G |
Observed: | A |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | stop_gained |
cDNA change: | c.1189C>T |
AA change: | p.Gln397* |
Exon/intron: | 8 |
dbSNP id: | |
1000g AF: | |
ExAC AF: | 0.000008236 |
ESP6500ea AF: | 0 |
ESP6500aa AF: | 0.0002 |
Classification: | 5 (pathogenic) |
# patients: | 1 |
# controls: | 0 |
Sources: | Human_Gene_Mutation_Database Hernandez_(2010)_Orphanet_J_Rare_Dis_5__34 |