Chromosome: | chr18 |
Position (hg19): | 21141392 |
Reference: | T |
Observed: | C |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.563A>G |
AA change: | p.Asn188Ser |
Exon/intron: | 5 |
dbSNP id: | rs549048534 |
1000g AF: | |
ExAC AF: | 0.00002471 |
ESP6500ea AF: | 0.002 |
ESP6500aa AF: | 0 |
Classification: | n/a |
# patients: | 1 |
# controls: | 0 |
Sources: | Bauer_(2013)_Hum_Mol_Genet_22:4349 na |