Variant #0000517920 (NC_000003.11:g.132213932G>A, DNAJC13(NM_015268.3):c.3942G>A)

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.132213932G>A
DNA change (hg38) g.132495088G>A
Published as DNAJC13(NM_015268.4):c.3942G>A (p.P1314=)
ISCN -
DB-ID DNAJC13_000019 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 -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00145 View details
Owner VKGL-NL_VUmc
Database submission license No license selected
Created by VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DNAJC13 NM_015268.3 -?/. - c.3942G>A r.(?) p.(Pro1314=)