Variant #0000039713 (NC_000003.11:g.148863334G>A, HPS3(NM_032383.3):c.1163+1G>A)

Individual ID 00019482
Chromosome 3
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.148863334G>A
DNA change (hg38) g.149145547G>A
Published as 1303+1G>A
ISCN -
DB-ID HPS3_000002 See all 6 reported entries
Variant remarks splice mutation
Reference PubMed: Huizing 2001, OMIM:var0002
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 8.0E-5 View details
Owner William (Bill) Oetting
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HPS3 NM_032383.3 +/. 5i c.1163+1G>A r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019467 DNA SEQ - - HPS3 2 William (Bill) Oetting