Variant #0000611952 (NC_000009.11:g.136308556G>A, ADAMTS13(NM_139025.3):c.2294G>A)

Chromosome 9
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.136308556G>A
DNA change (hg38) g.133443435G>A
Published as ADAMTS13(NM_139025.4):c.2294G>A (p.R765Q)
ISCN -
DB-ID ADAMTS13_000075
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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ADAMTS13 NM_139025.3 ?/. - c.2294G>A r.(?) p.(Arg765Gln)