Chromosome: | chr18 |
Position (hg19): | 21141324 |
Reference: | C |
Observed: | A |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant&splice_region_variant |
cDNA change: | c.631G>T |
AA change: | p.Asp211Tyr |
Exon/intron: | 5 |
dbSNP id: | rs367851289 |
1000g AF: | |
ExAC AF: | 0.000008236 |
ESP6500ea AF: | 0 |
ESP6500aa AF: | 0.0002 |
Classification: | 3 (unknown significance) |
# patients: | 0 |
# controls: | 1 |
Sources: | Exome_Variant_Server http://evs.gs.washington.edu/EVS/ |