Genomic variant #0000499591

Individual ID 00245684
Chromosome 10
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.?
DNA change (hg38) -
Published as p.V367_P440del
ISCN -
DB-ID HPSE2_000001 See all 4 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 -?/? 8-9 c.1099-4166_1320+840delins23 likely benign r.(?) p.(Val367_Arg592delinsAlaGlyThrTyrAspLeu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000246796 DNA SEQ - - HPSE2 1 -