Genomic variant #0000128955

Individual ID 00080000
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.82835347_82838730delinsAC
DNA change (hg38) g.83539528_83542911delinsAC
Published as g.72818_76201delinsAC
ISCN -
DB-ID VCAN_000001
Variant remarks -
Reference -
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 Burin des Roziers Cyril




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
VCAN NM_004385.4 +/. 8_8i c.6525_9265+643delinsAC - r.(6525_9265delinsAC) p.(Ser2176_Gly3089delinsArg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000080078 DNA SEQ-NG-IT Blood - VCAN 1 Burin des Roziers Cyril