Variant #0000146361 (NC_000016.9:g.16315540_16315548del, NM_001171.5:c.179_187del (ABCC6))

Individual ID 00088545
Chromosome 16
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.16315540_16315548del
DNA change (hg38) g.16221683_16221691del
Published as 179del9
ISCN -
DB-ID ABCC6_000220
Variant remarks -
Reference PubMed: Pulkkinen 2001
ClinVar ID -
dbSNP ID rs74315110
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Tim Hefferon
Database submission license No license selected
Created by Tim Hefferon
Date created 2009-07-02 00:00:00 +02:00 (CEST)
Date last edited 2020-07-09 13:57:36 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCC6 NM_001171.5 +/+ 2 c.179_187del r.(?) p.(Arg60_Tyr62del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000088688 DNA BESS - - ABCC6 2 Tim Hefferon


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