Chromosome: | chr18 |
Position (hg19): | 21148903 |
Reference: | C |
Observed: | T |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.347G>A |
AA change: | p.Arg116Gln |
Exon/intron: | 4 |
dbSNP id: | rs140952850 |
1000g AF: | |
ExAC AF: | 0.00002471 |
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/ |