Chromosome: | chr18 |
Position (hg19): | 21124916 |
Reference: | C |
Observed: | G |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | splice_region_variant&intron_variant |
cDNA change: | c.1947+8G>C |
AA change: | |
Exon/intron: | 12 |
dbSNP id: | rs66620415 |
1000g AF: | |
ExAC AF: | 0.008071 |
ESP6500ea AF: | 0.0079 |
ESP6500aa AF: | 0.0011 |
Classification: | 3 (unknown significance) |
# patients: | 1 |
# controls: | 0 |
Sources: | Niemann-Pick_Type_C_Disease_Gene_Variation_Database Runz__H._unpublished_(personal_communication) |