Genomic variant #0000128954

Individual ID 00079999
Chromosome 5
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.82830241_82840747del
DNA change (hg38) g.83534422_83544928del
Published as g.67712_78218del
ISCN -
DB-ID VCAN_000002
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Burin des Roziers Cyril




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
VCAN NM_004385.4 +/. 7i_8i c.4004-2585_9266-609del - r.(4004_9265del)) p.(Arg1336_Gly3089del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000080077 DNA SEQ-NG-IT Blood - VCAN 1 Burin des Roziers Cyril