Genomic variant #0000569162

Chromosome 20
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.1963610T>C
DNA change (hg38) -
Published as PDYN(NM_024411.4):c.121A>G (p.N41D)
ISCN -
DB-ID PDYN_000014
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) 0.00315 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PDYN NM_024411.4 ?/. - c.121A>G VUS r.(?) p.(Asn41Asp)