Chromosome: | chr18 |
Position (hg19): | 21140381 |
Reference: | T |
Observed: | C |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.695A>G |
AA change: | p.Asp232Gly |
Exon/intron: | 6 |
dbSNP id: | rs201956601 |
1000g AF: | |
ExAC AF: | 0.00007413 |
ESP6500ea AF: | 0.0159 |
ESP6500aa AF: | 0.003 |
Classification: | 2 (likely benign) |
# patients: | 0 |
# controls: | 1 |
Sources: | 1000Genome_Project http://www.1000genomes.org/ |