Chromosome: | chr18 |
Position (hg19): | 21115591 |
Reference: | C |
Observed: | G |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.3319G>C |
AA change: | p.Gly1107Arg |
Exon/intron: | 22 |
dbSNP id: | |
1000g AF: | |
ExAC AF: | 0.00002471 |
ESP6500ea AF: | 0.0001 |
ESP6500aa AF: | 0 |
Classification: | 4 (likely pathogenic) |
# patients: | 1 |
# controls: | 0 |
Sources: | Xiong_H__Gene._2012_May_1_498(2):332-5 http://www.ncbi.nlm.nih.gov/pubmed/22326530 |