Genomic variant #0000300713

Chromosome 20
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.1961298T>G
DNA change (hg38) -
Published as PDYN(NM_001190898.2):c.436A>C (p.M146L), PDYN(NM_024411.4):c.436A>C (p.M146L)
ISCN -
DB-ID PDYN_000007 See all 2 reported entries
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) 0.00523 View details
Owner VKGL-NL_Utrecht




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PDYN NM_024411.4 -?/. - c.436A>C likely benign r.(?) p.(Met146Leu)