Genomic variant #0000247674

Chromosome 20
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.1961124A>G
DNA change (hg38) g.1980478A>G
Published as PDYN(NM_024411.4):c.610T>C (p.Y204H)
ISCN -
DB-ID PDYN_000004
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_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PDYN NM_024411.4 ?/. - c.610T>C r.(?) p.(Tyr204His)