Chromosome: | chr18 |
Position (hg19): | 21118527 |
Reference: | G |
Observed: | A |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.3020C>T |
AA change: | p.Pro1007Leu |
Exon/intron: | 20 |
dbSNP id: | rs764789542 |
1000g AF: | |
ExAC AF: | 0.000008236 |
ESP6500ea AF: | 0.0001 |
ESP6500aa AF: | 0 |
Classification: | 5 (pathogenic) |
# patients: | 3 |
# controls: | 2 |
Sources: | Niemann-Pick_Type_C_Disease_Gene_Variation_Database Imrie_et_al._(2007)_J_Inherit_Metab_Dis_30:51-59 |