Genomic variant #0000001298

Individual ID 00000093
Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.77244777_77244781del
DNA change (hg38) -
Published as EXON 3, C.658_662DELATCTC, I220FS, CHRX:77131432_77131436DELATCTC
ISCN -
DB-ID ATP7A_000002
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ATP7A NM_000052.4 ?/. - c.659_663del - r.(?) p.(Ile220Serfs*9)
ATP7A NM_000052.5 ./. - c.659_663del - r.(?) p.(Ile220Serfs*9)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000093 DNA SEQ-NG - - ATP7A, ATP7B, GLB1, HBA1, SERPINA1, SMPD1 7 LOVD-team, but with Curator vacancy