Variant #0000624112 (NC_000019.9:g.8656880G>A, NM_030957.2:c.1695C>T (ADAMTS10))

Chromosome 19
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.8656880G>A
DNA change (hg38) g.8591996G>A
Published as ADAMTS10(NM_001282352.1):c.167C>T (p.A56V)
ISCN -
DB-ID ADAMTS10_000049
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) Retrieve
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2019-12-06 12:43:26 +01:00 (CET)
Date last edited 2020-07-15 11:27:54 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ADAMTS10 NM_030957.2 -?/. - c.1695C>T r.(?) p.(Gly565=)


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