Variant #0000130294 (NC_000003.11:g.148863323_148863330del, HPS3(NM_032383.3):c.1153_1160del)

Individual ID 00081096
Chromosome 3
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.148863323_148863330del
DNA change (hg38) g.149145536_149145543del
Published as -
ISCN -
DB-ID HPS3_000008
Variant remarks -
Reference PubMed: Trujillano 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Daniel Trujillano
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 +?/. - c.1153_1160del r.(?) p.(Val385Lysfs*2)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081208 DNA SEQ;SEQ-NG - - HPS3 1 Daniel Trujillano