Chromosome: | chr18 |
Position (hg19): | 21114441 |
Reference: | G |
Observed: | A |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.3560C>T |
AA change: | p.Ala1187Val |
Exon/intron: | 23 |
dbSNP id: | rs113371321 |
1000g AF: | |
ExAC AF: | 0.0001153 |
ESP6500ea AF: | 0.0029 |
ESP6500aa AF: | 0.002 |
Classification: | 4 (likely pathogenic) |
# patients: | 1 |
# controls: | 0 |
Sources: | Fancello_et_al._(2009)_Neurogenetics_10:229-239 http://www.ncbi.nlm.nih.gov/pubmed/19252935 |