Chromosome: | chr18 |
Position (hg19): | 21112189 |
Reference: | G |
Observed: | A |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.3814C>T |
AA change: | p.Arg1272Cys |
Exon/intron: | 25 |
dbSNP id: | rs200264267 |
1000g AF: | |
ExAC AF: | 0.00002471 |
ESP6500ea AF: | 0.0001 |
ESP6500aa AF: | 0 |
Classification: | 3 (unknown significance) |
# patients: | 0 |
# controls: | 1 |
Sources: | 1000Genome_Project http://www.1000genomes.org/ |