Chromosome: | chr18 |
Position (hg19): | 21114439 |
Reference: | C |
Observed: | A |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | stop_gained |
cDNA change: | c.3562G>T |
AA change: | p.Glu1188* |
Exon/intron: | 23 |
dbSNP id: | rs776701050 |
1000g AF: | |
ExAC AF: | 0.00002471 |
ESP6500ea AF: | 0.0001 |
ESP6500aa AF: | 0 |
Classification: | 5 (pathogenic) |
# patients: | 1 |
# controls: | 0 |
Sources: | Niemann-Pick_Type_C_Disease_Gene_Variation_Database Runz__H._unpublished_(personal_communication) |