Variant #0000337176 (NC_000009.11:g.136412346C>T, NC_000009.11(NM_001145320.1):c.939+11C>T (ADAMTSL2))

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.136412346C>T
DNA change (hg38) g.133547224C>T
Published as ADAMTSL2(NM_001145320.2):c.939+11C>T
ISCN -
DB-ID ADAMTSL2_000049 See all 3 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) 0.81227 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ADAMTSL2 NM_001145320.1 -/. - c.939+11C>T r.(=) p.(=)
ADAMTSL2 NM_014694.3 -/. - c.939+11C>T r.(=) p.(=)


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