Chromosome: | chr18 |
Position (hg19): | 21119321 |
Reference: | G |
Observed: | GAA |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | frameshift_variant |
cDNA change: | c.2907_2908dupTT |
AA change: | p.Ser970fs |
Exon/intron: | 19 |
dbSNP id: | rs761910746 |
1000g AF: | |
ExAC AF: | 0.000008237 |
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/ |