Variant #0000536970 (NC_000009.11:g.136301982C>G, ADAMTS13(NM_139025.3):c.1342C>G)

Chromosome 9
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.136301982C>G
DNA change (hg38) g.133436862C>G
Published as ADAMTS13(NM_139025.4):c.1342C>G (p.Q448E)
ISCN -
DB-ID ADAMTS13_000052 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.38048 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ADAMTS13 NM_139025.3 -/. - c.1342C>G r.(?) p.(Gln448Glu)