Chromosome: | chr18 |
Position (hg19): | 21113335 |
Reference: | GAC |
Observed: | G |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | frameshift_variant |
cDNA change: | c.3736_3737delGT |
AA change: | p.Val1246fs |
Exon/intron: | 24 |
dbSNP id: | rs767959682 |
1000g AF: | |
ExAC AF: | 0.000008236 |
ESP6500ea AF: | 0.0001 |
ESP6500aa AF: | 0 |
Classification: | n/a |
# patients: | 0 |
# controls: | 0 |
Sources: |