Genomic variant #0000039686

Individual ID 00019455
Chromosome 22
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.26862041G>A
DNA change (hg38) g.26466075G>A
Published as -
ISCN -
DB-ID HPS4_000005 See all 2 reported entries
Variant remarks reported as nonsense variant, located in intron (potential exon)
Reference PubMed: Yngvadottir 2009
ClinVar ID -
dbSNP ID rs3747129
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner William (Bill) Oetting




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
HPS4 NM_022081.5 +/. 9i c.706+151C>T - r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019448 DNA SEQ - - HPS4 1 William (Bill) Oetting