Chromosome: | chr18 |
Position (hg19): | 21115666 |
Reference: | T |
Observed: | C |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | splice_acceptor_variant&intron_variant |
cDNA change: | c.3246-2A>G |
AA change: | |
Exon/intron: | 21 |
dbSNP id: | |
1000g AF: | |
ExAC AF: | 0.00001647 |
ESP6500ea AF: | 0.0001 |
ESP6500aa AF: | 0 |
Classification: | 4 (likely pathogenic) |
# patients: | 1 |
# controls: | 0 |
Sources: | Kluenemann_(2013)_J_Neurol_Sci_335:219 na |