Variant #0000517930 (NC_000003.11:g.132229967C>T, DNAJC13(NM_015268.3):c.5172C>T)

Chromosome 3
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.132229967C>T
DNA change (hg38) g.132511123C>T
Published as DNAJC13(NM_015268.4):c.5172C>T (p.Y1724=)
ISCN -
DB-ID DNAJC13_000056
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) Variant not found in online data sets
Owner VKGL-NL_VUmc
Database submission license No license selected
Created by VKGL-NL_VUmc
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DNAJC13 NM_015268.3 -?/. - c.5172C>T r.(?) p.(Tyr1724=)