Variant #0000434959 (NC_000009.11:g.136310932G>A, ADAMTS13(NM_139025.3):c.2723G>A)

Individual ID 00204544
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.136310932G>A
DNA change (hg38) g.133445811G>A
Published as -
ISCN -
DB-ID ADAMTS13_000043
Variant remarks submitted through SIB; ExPASy_027131; The mutation results in lack of protein secretion
Reference PubMed: Matsumoto et al (2004)
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner SIB - Livia Famiglietti
Database submission license No license selected
Created by SIB - Livia Famiglietti
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ADAMTS13 NM_139025.3 +/? ? c.2723G>A r.(?) p.(Cys908Tyr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000205573 DNA SEQ - - ADAMTS13 1 SIB - Livia Famiglietti