Chromosome: | chr18 |
Position (hg19): | 21134726 |
Reference: | C |
Observed: | T |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.1549G>A |
AA change: | p.Val517Ile |
Exon/intron: | 9 |
dbSNP id: | rs201791992 |
1000g AF: | |
ExAC AF: | 0.0000906 |
ESP6500ea AF: | 0.0002 |
ESP6500aa AF: | 0 |
Classification: | 2 (likely benign) |
# patients: | 0 |
# controls: | 1 |
Sources: | 1000Genome_Project http://www.1000genomes.org/ |