Variant #0000354818 (NC_000009.11:g.136287582C>K, ADAMTS13(NM_139025.3):c.19C>K)

Individual ID 00153708
Chromosome 9
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.136287582C>K
DNA change (hg38) g.133422462C>K
Published as rs34024143
ISCN -
DB-ID ADAMTS13_000046 See all 13 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Judy Savige
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ADAMTS13 NM_139025.3 ./. - c.19C>K r.(?) p.(Arg7GlyˆTrp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000154569 DNA SEQ - - COL4A3 2 Judy Savige