Variant #0000517923 (NC_000003.11:g.132221149C>T, DNAJC13(NM_015268.3):c.4553C>T)

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.132221149C>T
DNA change (hg38) g.132502305C>T
Published as DNAJC13(NM_001329126.1):c.4568C>T (p.A1523V)
ISCN -
DB-ID DNAJC13_000051
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 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.4553C>T r.(?) p.(Ala1518Val)