Variant #0000676824 (NC_000003.11:g.132196860T>G, DNAJC13(NM_015268.3):c.2585T>G)

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.132196860T>G
DNA change (hg38) -
Published as DNAJC13(NM_015268.4):c.2585T>G (p.L862W)
ISCN -
DB-ID DNAJC13_000073
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_Rotterdam
Database submission license No license selected
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DNAJC13 NM_015268.3 ?/. - c.2585T>G r.(?) p.(Leu862Trp)