Chromosome: | chr18 |
Position (hg19): | 21125070 |
Reference: | TG |
Observed: | T |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | frameshift_variant |
cDNA change: | c.1800delC |
AA change: | p.Ile601fs |
Exon/intron: | 12 |
dbSNP id: | rs483352879 |
1000g AF: | |
ExAC AF: | 0.00002471 |
ESP6500ea AF: | 0 |
ESP6500aa AF: | 0.0005 |
Classification: | 4 (likely pathogenic) |
# patients: | 1 |
# controls: | 0 |
Sources: | Zhang_OJRD http://www.ncbi.nlm.nih.gov/pubmed/24190732 |