Chromosome: | chr18 |
Position (hg19): | 21114438 |
Reference: | TC |
Observed: | T |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | frameshift_variant |
cDNA change: | c.3562delG |
AA change: | p.Glu1188fs |
Exon/intron: | 23 |
dbSNP id: | rs758231839 |
1000g AF: | |
ExAC AF: | 0.000008236 |
ESP6500ea AF: | 0.0001 |
ESP6500aa AF: | 0 |
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 |