Chromosome: | chr18 |
Position (hg19): | 21124501 |
Reference: | C |
Observed: | T |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | splice_region_variant&intron_variant |
cDNA change: | c.1948-11G>A |
AA change: | |
Exon/intron: | 12 |
dbSNP id: | rs371122321 |
1000g AF: | |
ExAC AF: | 0.00014 |
ESP6500ea AF: | 0.0003 |
ESP6500aa AF: | 0 |
Classification: | 2 (likely benign) |
# patients: | 0 |
# controls: | 3 |
Sources: | Exome_Variant_Server http://evs.gs.washington.edu/EVS/ |