Chromosome: | chr18 |
Position (hg19): | 21112133 |
Reference: | GAC |
Observed: | G |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | 3_prime_UTR_variant |
cDNA change: | c.*31_*32delGT |
AA change: | |
Exon/intron: | 25 |
dbSNP id: | rs543952304 |
1000g AF: | |
ExAC AF: | 0.0008978 |
ESP6500ea AF: | 0.0038 |
ESP6500aa AF: | 0.0138 |
Classification: | n/a |
# patients: | 0 |
# controls: | 0 |
Sources: |