Variant #0000517908 (NC_000003.11:g.132186072C>T, DNAJC13(NM_015268.3):c.2123C>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.132186072C>T
DNA change (hg38) g.132467228C>T
Published as DNAJC13(NM_015268.4):c.2123C>T (p.A708V)
ISCN -
DB-ID DNAJC13_000042
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) 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.2123C>T r.(?) p.(Ala708Val)