Genomic variant #0000268463

Chromosome 19
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.10079093C>T
DNA change (hg38) g.9968417C>T
Published as COL5A3(NM_015719.3):c.4282G>A (p.V1428M)
ISCN -
DB-ID COL5A3_000002
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) 0.21198 View details
Owner VKGL-NL_VUmc
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL5A3 NM_015719.3 -/. - c.4282G>A r.(?) p.(Val1428Met)