Chromosome: | chr18 |
Position (hg19): | 21123536 |
Reference: | TAAA |
Observed: | T |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | splice_region_variant&intron_variant |
cDNA change: | c.2131-6_2131-4delTTT |
AA change: | |
Exon/intron: | 13 |
dbSNP id: | rs554261783 |
1000g AF: | |
ExAC AF: | 0.012 |
ESP6500ea AF: | 0.0001 |
ESP6500aa AF: | 0.0002 |
Classification: | n/a |
# patients: | 0 |
# controls: | 0 |
Sources: |