Chromosome: | chr18 |
Position (hg19): | 21136462 |
Reference: | C |
Observed: | T |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | synonymous_variant |
cDNA change: | c.1071G>A |
AA change: | p.Ser357Ser |
Exon/intron: | 8 |
dbSNP id: | rs61731964 |
1000g AF: | |
ExAC AF: | 0.0008813 |
ESP6500ea AF: | 0.0001 |
ESP6500aa AF: | 0.0118 |
Classification: | 1 (benign) |
# patients: | 0 |
# controls: | 53 |
Sources: | Exome_Variant_Server http://evs.gs.washington.edu/EVS/ |