Variant #0000517924 (NC_000003.11:g.132222154A>G, DNAJC13(NM_015268.3):c.4813A>G)

Chromosome 3
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.132222154A>G
DNA change (hg38) g.132503310A>G
Published as DNAJC13(NM_015268.4):c.4813A>G (p.I1605V)
ISCN -
DB-ID DNAJC13_000052
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00074 View details
Owner VKGL-NL_Rotterdam
Database submission license No license selected
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DNAJC13 NM_015268.3 -/. - c.4813A>G r.(?) p.(Ile1605Val)