Chromosome: | chr18 |
Position (hg19): | 21116748 |
Reference: | A |
Observed: | G |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.3134T>C |
AA change: | p.Leu1045Pro |
Exon/intron: | 21 |
dbSNP id: | |
1000g AF: | |
ExAC AF: | 0.00005765 |
ESP6500ea AF: | 0.0005 |
ESP6500aa AF: | 0.0002 |
Classification: | n/a |
# patients: | 1 |
# controls: | 0 |
Sources: | Dardis na |