Variant #0000434938 (NC_000009.11:g.136293870G>C, ADAMTS13(NM_139025.3):c.803G>C)

Individual ID 00204523
Chromosome 9
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.136293870G>C
DNA change (hg38) g.133428750G>C
Published as -
ISCN -
DB-ID ADAMTS13_000039
Variant remarks submitted through SIB; ExPASy_027117; The mutation results in lack of protein secretion and loss of proteolytic activity
Reference PubMed: Kokame et al (2002)
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner SIB - Livia Famiglietti
Database submission license No license selected
Created by SIB - Livia Famiglietti
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ADAMTS13 NM_139025.3 +/? ? c.803G>C r.(?) p.(Arg268Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000205552 DNA SEQ - - ADAMTS13 1 SIB - Livia Famiglietti