Variant #0000000369 (NC_000013.10:g.52515354A>G, ATP7B(NM_000053.3):c.3419T>C)

Individual ID 00000027
Chromosome 13
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.52515354A>G
DNA change (hg38) g.51941218A>G
Published as -
ISCN -
DB-ID ATP7B_000001 See all 89 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.56922 View details
Owner Gerard C.P. Schaafsma
Database submission license No license selected
Created by Gerard C.P. Schaafsma
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATP7B NM_000053.3 ./. - c.3419T>C r.(?) p.(Val1140Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000027 DNA SEQ-NG - - AMPD1, ARSB, ATP7B, CBS, CFTR, DPYD, ETFB, HEXB, MYO5A, NHLRC1, NPC1, NPHS1, SLC26A2 13 Global Variome, with Curator vacancy