Variant #0000140580 (NC_000019.9:g.8673114T>C, NM_030957.2:c.-198A>G (ADAMTS10))

Individual ID 00088065
Chromosome 19
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.8673114T>C
DNA change (hg38) g.8608232T>C
Published as -
ISCN -
DB-ID ADAMTS10_000003 See all 2 reported entries
Variant remarks Global MAF: C=0.0092/20
Reference -
ClinVar ID -
dbSNP ID rs4530289
Origin Germline
Segregation -
Frequency 9
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2014-10-13 11:36:29 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ADAMTS10 NM_030957.2 -/- 3 c.-198A>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000088205 DNA SEQ - - ADAMTS10 2 Andreas Laner


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