Variant #0000128950 (NC_000015.9:g.89385002del, NM_013227.3:c.661del (ACAN))

Individual ID 00079995
Chromosome 15
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.89385002del
DNA change (hg38) g.88841771del
Published as 661delT (Y221fsX10)
ISCN -
DB-ID ACAN_000002
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Xuyun Hu
Database submission license No license selected
Created by Xuyun Hu
Date created 2016-08-31 14:15:56 +02:00 (CEST)
Date last edited 2016-08-31 15:22:19 +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 +/. 5 c.661del r.(?) p.(Tyr221Metfs*10)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000080073 DNA SEQ-NG-I - - ACAN 1 Xuyun Hu


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