Chromosome: | chr18 |
Position (hg19): | 21114410 |
Reference: | G |
Observed: | A |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | splice_region_variant&synonymous_variant |
cDNA change: | c.3591C>T |
AA change: | p.Ser1197Ser |
Exon/intron: | 23 |
dbSNP id: | rs191776973 |
1000g AF: | |
ExAC AF: | 0.00007413 |
ESP6500ea AF: | 0 |
ESP6500aa AF: | 0.0005 |
Classification: | 2 (likely benign) |
# patients: | 0 |
# controls: | 2 |
Sources: | Exome_Variant_Server http://evs.gs.washington.edu/EVS/ |