Variant #0000340532 (NC_000015.9:g.89383370C>T, NM_013227.3:c.582C>T (ACAN))

Chromosome 15
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.89383370C>T
DNA change (hg38) g.88840139C>T
Published as ACAN(NM_001135.3):c.582C>T (p.(Asp194=))
ISCN -
DB-ID ACAN_000046 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) 0.00182 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 2022-05-09 15:51:19 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACAN NM_013227.3 -/. - c.582C>T r.(?) p.(Asp194=)


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