Chromosome: | chr18 |
Position (hg19): | 21141425 |
Reference: | C |
Observed: | T |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.530G>A |
AA change: | p.Cys177Tyr |
Exon/intron: | 5 |
dbSNP id: | rs80358252 |
1000g AF: | |
ExAC AF: | 0.004209 |
ESP6500ea AF: | 0.0024 |
ESP6500aa AF: | 0.0009 |
Classification: | 5 (pathogenic) |
# patients: | 2 |
# controls: | 0 |
Sources: | Niemann-Pick_Type_C_Disease_Gene_Variation_Database Fernandez-Valero_et_al._(2005)_Clin_Genet_68:245-254 |