Genomic variant #0000039706

Individual ID 00019475
Chromosome 22
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.26866740G>A
DNA change (hg38) g.26470774G>A
Published as -
ISCN -
DB-ID HPS4_000004 See all 2 reported entries
Variant remarks -
Reference PubMed: Suzuki 2002, OMIM:var0004
ClinVar ID -
dbSNP ID -
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 +/. 7 c.541C>T - r.(?) p.(Gln181*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019460 DNA SEQ - - HPS4 2 William (Bill) Oetting