Genomic variant #0000040364

Individual ID 00019897
Chromosome 13
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.52536008G>A
DNA change (hg38) g.51961872G>A
Published as Asn637Asn
ISCN -
DB-ID ATP7B_000005
Variant remarks -
Reference PubMed: Gilissen 2014
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Marianne Vos (LOVD-team)




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ATP7B NM_000053.3 -?/. 6 c.1911C>T - r.(?) p.(Asn637=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019890 DNA SEQ - - ATP7B, CEP170B 2 Marianne Vos (LOVD-team)