Chromosome: | chr18 |
Position (hg19): | 21124895 |
Reference: | AGAACAT |
Observed: | A |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | intron_variant |
cDNA change: | c.1947+23_1947+28delATGTTC |
AA change: | |
Exon/intron: | 12 |
dbSNP id: | rs748436211 |
1000g AF: | |
ExAC AF: | 0.000008237 |
ESP6500ea AF: | 0.0015 |
ESP6500aa AF: | 0.0007 |
Classification: | n/a |
# patients: | 0 |
# controls: | 0 |
Sources: |