Genomic variant #0000565481

Chromosome 19
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.10084639del
DNA change (hg38) -
Published as COL5A3(NM_015719.3):c.3515delG (p.(Gly1172GlufsTer96))
ISCN -
DB-ID COL5A3_000018
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
COL5A3 NM_015719.3 ?/. - c.3515del VUS r.(?) p.(Gly1172Glufs*96)