Variant #0000275384 (NC_000003.11:g.132222104G>A, DNAJC13(NM_015268.3):c.4763G>A)

Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.132222104G>A
DNA change (hg38) g.132503260G>A
Published as DNAJC13(NM_015268.4):c.4763G>A (p.R1588H)
ISCN -
DB-ID DNAJC13_000026
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license No license selected
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DNAJC13 NM_015268.3 ?/. - c.4763G>A r.(?) p.(Arg1588His)