Variant #0000684775 (NC_000009.11:g.136310917C>T, ADAMTS13(NM_139025.3):c.2708C>T)

Individual ID 00308728
Chromosome 9
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.136310917C>T
DNA change (hg38) g.133445796C>T
Published as -
ISCN -
DB-ID ADAMTS13_000067 See all 2 reported entries
Variant remarks classification based on frequency in 305 unrelated individuals
Reference PubMed: Le 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency frequency 0.022
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0034 View details
Owner Global Variome, with Curator vacancy
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ADAMTS13 NM_139025.3 -?/. - c.2708C>T r.(?) p.(Ser903Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000309873 DNA SEQ;SEQ-NG - 105 WGS/200 WES ADAMTS13 1 Global Variome, with Curator vacancy