Genomic variant #0000598336

Individual ID 00266162
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.118678435_118678436delinsGGGT
DNA change (hg38) g.119544472_119544473delinsGGGT
Published as -
ISCN -
DB-ID CXorf56_000028
Variant remarks -
Reference PubMed: Rocha 2020, Journal: Rocha 2020
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 Aida Bertoli-Avella
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CXorf56 NM_022101.3 +?/. - c.303_304delinsACCC r.(?) p.(Phe101Leufs*20)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000267284 DNA SEQ-NG-I blood - - 1 Aida Bertoli-Avella