Chromosome: | chr18 |
Position (hg19): | 21119909 |
Reference: | C |
Observed: | T |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | synonymous_variant |
cDNA change: | c.2661G>A |
AA change: | p.Pro887Pro |
Exon/intron: | 18 |
dbSNP id: | rs9949660 |
1000g AF: | |
ExAC AF: | 0.001828 |
ESP6500ea AF: | 0 |
ESP6500aa AF: | 0.015 |
Classification: | 1 (benign) |
# patients: | 1 |
# controls: | 66 |
Sources: | Exome_Variant_Server__Niemann-Pick_Type_C_Disease_Gene_Variation_Database NCBI_Entrez_SNP_database_(dbSNP_BUILD_127) |