Chromosome: | chr18 |
Position (hg19): | 21140382 |
Reference: | CCA |
Observed: | C |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | frameshift_variant |
cDNA change: | c.692_693delTG |
AA change: | p.Val231fs |
Exon/intron: | 6 |
dbSNP id: | |
1000g AF: | |
ExAC AF: | 0.00007413 |
ESP6500ea AF: | 0.0159 |
ESP6500aa AF: | 0.003 |
Classification: | n/a |
# patients: | 1 |
# controls: | 0 |
Sources: | Polese na |