Chromosome: | chr18 |
Position (hg19): | 21119411 |
Reference: | G |
Observed: | T |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | stop_gained |
cDNA change: | c.2819C>A |
AA change: | p.Ser940* |
Exon/intron: | 19 |
dbSNP id: | |
1000g AF: | |
ExAC AF: | 0.00003295 |
ESP6500ea AF: | 0 |
ESP6500aa AF: | 0.0002 |
Classification: | 5 (pathogenic) |
# patients: | 2 |
# controls: | 0 |
Sources: | Niemann-Pick_Type_C_Disease_Gene_Variation_Database Millat_et_al._(2001)_Am_J_Hum_Genet_68:1373-1385 |