Variant #0000909756 (NC_000013.10:g.52585548G>T, NM_000053.3:c.-75C>A (ATP7B))

Individual ID 00428557
Chromosome 13
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.52585548G>T
DNA change (hg38) g.52011412G>T
Published as [-408T>C;-75C>A]
ISCN -
DB-ID ATP7B_000127 See all 11 reported entries
Variant remarks no variant 2nd chromosome; significantly reduced activity combined allele (-11.46) in luciferase promoter-reporter assay
Reference PubMed: Mukherjee 2014
ClinVar ID -
dbSNP ID rs2277448
Origin Germline
Segregation -
Frequency 0.082
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-01-05 09:31:02 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATP7B NM_000053.3 +?/. 1 c.-75C>A r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000429969 DNA SEQ - - ATP7B 3 Johan den Dunnen


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