Variant #0000277733 (NC_000003.11:g.148857972G>A, HPS3(NM_032383.3):c.399G>A)

Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.148857972G>A
DNA change (hg38) g.149140185G>A
Published as HPS3(NM_032383.4):c.399G>A (p.S133=)
ISCN -
DB-ID HPS3_000010
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CP NM_000096.3 ?/. - c.*33529C>T r.(=) p.(=)
HPS3 NM_032383.3 ?/. - c.399G>A r.(?) p.(Ser133=)