Chromosome: | chr18 |
Position (hg19): | 21118536 |
Reference: | G |
Observed: | A |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.3011C>T |
AA change: | p.Ser1004Leu |
Exon/intron: | 20 |
dbSNP id: | rs150334966 |
1000g AF: | |
ExAC AF: | 0.000939 |
ESP6500ea AF: | 0.0008 |
ESP6500aa AF: | 0.0002 |
Classification: | 2 (likely benign) |
# patients: | 1 |
# controls: | 8 |
Sources: | Exome_Variant_Server__Niemann-Pick_Type_C_Disease_Gene_Variation_Database Sun_et_al._(2001)_Am_J_Hum_Genet_68:1361-1372 |