Variant #0000568934 (NC_000019.9:g.8670115C>T, NM_030957.2:c.217G>A (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.8670115C>T
DNA change (hg38) g.8605230C>T
Published as ADAMTS10(NM_030957.2):c.217G>A (p.(Glu73Lys)), ADAMTS10(NM_030957.4):c.217G>A (p.E73K)
ISCN -
DB-ID ADAMTS10_000042 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) 0.00394 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ADAMTS10 NM_030957.2 -?/. - c.217G>A r.(?) p.(Glu73Lys)


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.