Chromosome: | chr18 |
Position (hg19): | 21113406 |
Reference: | T |
Observed: | C |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.3667A>G |
AA change: | p.Ile1223Val |
Exon/intron: | 24 |
dbSNP id: | rs368658600 |
1000g AF: | |
ExAC AF: | 0.00004118 |
ESP6500ea AF: | 0 |
ESP6500aa AF: | 0.0002 |
Classification: | 2 (likely benign) |
# patients: | 0 |
# controls: | 1 |
Sources: | Exome_Variant_Server http://evs.gs.washington.edu/EVS/ |