Variant #0000146339 (NC_000016.9:g.16315543C>T, NM_001171.5:c.182G>A (ABCC6))

Individual ID 00088523
Chromosome 16
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.16315543C>T
DNA change (hg38) g.16221686C>T
Published as -
ISCN -
DB-ID ABCC6_000003
Variant remarks -
Reference PubMed: Le Saux 2001
ClinVar ID -
dbSNP ID rs72657696
Origin Germline
Segregation -
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 2009-06-25 00:00:00 +02:00 (CEST)
Date last edited 2024-02-07 10:17:36 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCC6 NM_001171.5 -/- 2 c.182G>A r.(?) p.(Gly61Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000088666 DNA BESS - - ABCC6 1 Tim Hefferon


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