Chromosome: | chr18 |
Position (hg19): | 21118615 |
Reference: | G |
Observed: | A |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.2932C>T |
AA change: | p.Arg978Cys |
Exon/intron: | 20 |
dbSNP id: | rs28942108 |
1000g AF: | |
ExAC AF: | 0.00001647 |
ESP6500ea AF: | 0.0001 |
ESP6500aa AF: | 0 |
Classification: | 4 (likely pathogenic) |
# patients: | 1 |
# controls: | 0 |
Sources: | Niemann-Pick_Type_C_Disease_Gene_Variation_Database Ribeiro_et_al._(2001)_Hum_Genet_109:24-32 |