Genomic variant #0000326140

Chromosome 19
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.10089875G>A
DNA change (hg38) -
Published as COL5A3(NM_015719.3):c.2807C>T (p.(Pro936Leu))
ISCN -
DB-ID COL5A3_000007
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
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.2807C>T VUS r.(?) p.(Pro936Leu)