Variant #0000864003 (NC_000015.9:g.89382223G>A, NM_013227.3:c.400G>A (ACAN))

Chromosome 15
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.89382223G>A
DNA change (hg38) -
Published as ACAN(NM_001135.3):c.400G>A (p.(Glu134Lys)), ACAN(NM_013227.3):c.400G>A (p.E134K)
ISCN -
DB-ID ACAN_000073 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) 4.0E-5 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 2022-05-09 16:01:56 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACAN NM_013227.3 ?/. - c.400G>A r.(?) p.(Glu134Lys)


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