Chromosome: | chr18 |
Position (hg19): | 21125052 |
Reference: | G |
Observed: | A |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | stop_gained |
cDNA change: | c.1819C>T |
AA change: | p.Arg607* |
Exon/intron: | 12 |
dbSNP id: | |
1000g AF: | |
ExAC AF: | 0.00005765 |
ESP6500ea AF: | 0 |
ESP6500aa AF: | 0.0005 |
Classification: | 5 (pathogenic) |
# patients: | 1 |
# controls: | 0 |
Sources: | Niemann-Pick_Type_C_Disease_Gene_Variation_Database Bauer_et_al._(2002)_Hum_Mutat_19:30-38 |