Chromosome: | chr18 |
Position (hg19): | 21148808 |
Reference: | C |
Observed: | G |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.442G>C |
AA change: | p.Val148Leu |
Exon/intron: | 4 |
dbSNP id: | rs200323346 |
1000g AF: | |
ExAC AF: | 0.00002471 |
ESP6500ea AF: | 0 |
ESP6500aa AF: | 0.0002 |
Classification: | 2 (likely benign) |
# patients: | 0 |
# controls: | 1 |
Sources: | 1000Genome_Project http://www.1000genomes.org/ |