Genomic variant #0000499577

Individual ID 00245685
Chromosome 10
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.100249860G>A
DNA change (hg38) -
Published as p.R472X
ISCN -
DB-ID HPSE2_000002 See all 2 reported entries
Variant remarks -
Reference PubMed: Daly 2010
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner -
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
HPSE2 NM_021828.4 +/? 10 c.1414C>T pathogenic (recessive) r.(?) p.(Arg472*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000246797 DNA SEQ - - HPSE2 1 -