Variant #0000434951 (NC_000009.11:g.136303015A>G, ADAMTS13(NM_139025.3):c.1582A>G)

Individual ID 00204536
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.136303015A>G
DNA change (hg38) g.133437895A>G
Published as -
ISCN -
DB-ID ADAMTS13_000032
Variant remarks submitted through SIB; ExPASy_027123
Reference PubMed: Levy et al (2001)
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.1582A>G r.(?) p.(Arg528Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000205565 DNA SEQ - - ADAMTS13 1 SIB - Livia Famiglietti