Variant #0000568922 (NC_000019.9:g.8651480C>T, NM_030957.2:c.2365G>A (ADAMTS10))

Chromosome 19
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.8651480C>T
DNA change (hg38) g.8586596C>T
Published as ADAMTS10(NM_030957.4):c.2365G>A (p.E789K)
ISCN -
DB-ID ADAMTS10_000032
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_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2021-09-17 14:40:49 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ADAMTS10 NM_030957.2 ?/. - c.2365G>A r.(?) p.(Glu789Lys)


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