Chromosome: | chr18 |
Position (hg19): | 21124998 |
Reference: | CAACGGTG |
Observed: | C |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | frameshift_variant |
cDNA change: | c.1866_1872delCACCGTT |
AA change: | p.Phe622fs |
Exon/intron: | 12 |
dbSNP id: | rs756605670 |
1000g AF: | |
ExAC AF: | 0.000008236 |
ESP6500ea AF: | 0 |
ESP6500aa AF: | 0.0005 |
Classification: | n/a |
# patients: | 0 |
# controls: | 0 |
Sources: |