Genomic variant #0000195713

Individual ID 00119120
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.118694313_118694314insTA
DNA change (hg38) g.119560350_119560351insTA
Published as -
ISCN -
DB-ID CXorf56_000024 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Annemieke Verkerk




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CXorf56 NM_022101.3 +?/. 2 c.159_160insTA - r.(?) p.(Asp54*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000119589 DNA SEQ-NG - - CXorf56 1 Annemieke Verkerk