Genomic variant #0000256507

Chromosome 22
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.26860069A>C
DNA change (hg38) -
Published as HPS4(NM_022081.5):c.1527T>G (p.S509R)
ISCN -
DB-ID HPS4_000016
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
HPS4 NM_022081.5 ?/. - c.1527T>G VUS r.(?) p.(Ser509Arg)