Genomic variant #0000000300

Individual ID 00000075
Chromosome 13
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
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 (large NGS studies) 0.57756 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

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     
0000000075 DNA NGS - - ATP7B, CDH23, ETFB, GAA, HESX1, IGHMBP2, LAMA2, MEFV, NPHP4, SERPINA1 13 LOVD-team, but with Curator vacancy