Genomic variant #0000253055

Chromosome 10
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.100503793A>G
DNA change (hg38) -
Published as HPSE2(NM_001166246.1):c.631T>C (p.Y211H), HPSE2(NM_021828.4):c.631T>C (p.Y211H)
ISCN -
DB-ID HPSE2_000011 See all 2 reported entries
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) 0.00792 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
HPSE2 NM_021828.4 -/. - c.631T>C benign r.(?) p.(Tyr211His)