Chromosome: | chr18 |
Position (hg19): | 21114551 |
Reference: | GCT |
Observed: | G |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | intron_variant |
cDNA change: | c.3478-30_3478-29delAG |
AA change: | |
Exon/intron: | 22 |
dbSNP id: | rs779803787 |
1000g AF: | |
ExAC AF: | 0.000008244 |
ESP6500ea AF: | 0 |
ESP6500aa AF: | 0.0005 |
Classification: | n/a |
# patients: | 0 |
# controls: | 0 |
Sources: |