Chromosome: | chr18 |
Position (hg19): | 21116864 |
Reference: | AAG |
Observed: | A |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | intron_variant |
cDNA change: | c.3042-26_3042-25delCT |
AA change: | |
Exon/intron: | 20 |
dbSNP id: | rs370682520 |
1000g AF: | |
ExAC AF: | 0.00006589 |
ESP6500ea AF: | 0 |
ESP6500aa AF: | 0.0002 |
Classification: | n/a |
# patients: | 0 |
# controls: | 0 |
Sources: |