Chromosome: | chr18 |
Position (hg19): | 21153473 |
Reference: | ATTGTACCTC |
Observed: | A |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | disruptive_inframe_deletion |
cDNA change: | c.114_122delGAGGTACAA |
AA change: | p.Lys38_Tyr40del |
Exon/intron: | 2 |
dbSNP id: | |
1000g AF: | |
ExAC AF: | 0.00002471 |
ESP6500ea AF: | 0.0002 |
ESP6500aa AF: | 0 |
Classification: | n/a |
# patients: | 1 |
# controls: | 0 |
Sources: | Polese na |