Genomic variant #0000252399

Chromosome 20
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.1961102A>C
DNA change (hg38) g.1980456A>C
Published as PDYN(NM_024411.4):c.632T>G (p.L211W)
ISCN -
DB-ID PDYN_000003
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_Utrecht
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PDYN NM_024411.4 +?/. - c.632T>G r.(?) p.(Leu211Trp)