Variant #0000146473 (NC_000016.9:g.16313512C>A, NM_001171.5:c.373G>T (ABCC6))

Individual ID 00088657
Chromosome 16
Allele Unknown
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.16313512C>A
DNA change (hg38) g.16219655C>A
Published as -
ISCN -
DB-ID ABCC6_000368
Variant remarks -
Reference PubMed: Miksch 2005
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Tim Hefferon
Database submission license No license selected
Created by Tim Hefferon
Date created 2008-10-20 00:00:00 +02:00 (CEST)
Date last edited 2021-07-16 05:28:59 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCC6 NM_001171.5 +/+ 4 c.373G>T r.(?) p.(Glu125*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000088800 DNA BESS - - ABCC6 1 Tim Hefferon


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