Chromosome: | chr18 |
Position (hg19): | 21136367 |
Reference: | C |
Observed: | A |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.1166G>T |
AA change: | p.Arg389Leu |
Exon/intron: | 8 |
dbSNP id: | |
1000g AF: | |
ExAC AF: | 0.00006589 |
ESP6500ea AF: | 0 |
ESP6500aa AF: | 0.0005 |
Classification: | 4 (likely pathogenic) |
# patients: | 2 |
# controls: | 0 |
Sources: | Fancello_et_al._(2009)_Neurogenetics_10:229-239 http://www.ncbi.nlm.nih.gov/pubmed/19252935 |