Chromosome: | chr18 |
Position (hg19): | 21119430 |
Reference: | G |
Observed: | A |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | stop_gained |
cDNA change: | c.2800C>T |
AA change: | p.Arg934* |
Exon/intron: | 19 |
dbSNP id: | rs370721218 |
1000g AF: | |
ExAC AF: | 0.000008237 |
ESP6500ea AF: | 0.0001 |
ESP6500aa AF: | 0 |
Classification: | 5 (pathogenic) |
# patients: | 1 |
# controls: | 1 |
Sources: | Exome_Variant_Server__Niemann-Pick_Type_C_Disease_Gene_Variation_Database Runz__H._unpublished_(personal_communication) |