Genomic variant #0000499597

Individual ID 00245676
Chromosome 10
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.100995318_100995319del
DNA change (hg38) -
Published as c.241_242delCT
ISCN -
DB-ID HPSE2_000005 See all 2 reported entries
Variant remarks From parent with French origin mutation
Reference PubMed: Pang 2010
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 -
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
HPSE2 NM_021828.4 +/? 1 c.241_242del pathogenic (recessive) r.(?) p.(Leu81Alafs*9)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000246788 DNA SEQ - - HPSE2 2 -