Chromosome: | chr18 |
Position (hg19): | 21112206 |
Reference: | C |
Observed: | T |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.3797G>A |
AA change: | p.Arg1266Gln |
Exon/intron: | 25 |
dbSNP id: | rs1805084 |
1000g AF: | |
ExAC AF: | 0.073 |
ESP6500ea AF: | 0.03 |
ESP6500aa AF: | 0.2308 |
Classification: | 1 (benign) |
# patients: | 1 |
# controls: | 1275 |
Sources: | Exome_Variant_Server__Niemann-Pick_Type_C_Disease_Gene_Variation_Database Fernandez-Valero_et_al._(2005)_Clin_Genet_68:245-254 |