Chromosome: | chr18 |
Position (hg19): | 21137124 |
Reference: | G |
Observed: | A |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | synonymous_variant |
cDNA change: | c.912C>T |
AA change: | p.Pro304Pro |
Exon/intron: | 7 |
dbSNP id: | rs140894981 |
1000g AF: | |
ExAC AF: | 0.00006589 |
ESP6500ea AF: | 0 |
ESP6500aa AF: | 0.0007 |
Classification: | 2 (likely benign) |
# patients: | 0 |
# controls: | 3 |
Sources: | Exome_Variant_Server http://evs.gs.washington.edu/EVS/ |