NPC-db2
Niemann-Pick Type C Database

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Variant details:

Chromosome: chr18
Position (hg19): 21119794
Reference: C
Observed: T
Gene: NPC1
Transcript: NM_000271.4
Type: missense_variant
cDNA change: c.2776G>A
AA change: p.Ala926Thr
Exon/intron: 18
dbSNP id: rs564631426
1000g AF:
ExAC AF: 0.00001647
ESP6500ea AF: 0.4698
ESP6500aa AF: 0.3879
Classification: 4 (likely pathogenic)
# patients: 1
# controls: 0
Sources: Niemann-Pick_Type_C_Disease_Gene_Variation_Database Fernandez-Valero_et_al._(2005)_Clin_Genet_68:245-254