Variant #0000195713 (NC_000023.10:g.118694313_118694314insTA, NM_022101.3:c.159_160insTA (CXorf56))

Individual ID 00119120
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.118694313_118694314insTA
DNA change (hg38) g.119560350_119560351insTA
Published as -
ISCN -
DB-ID CXorf56_000024 See all 2 reported entries
Variant remarks -
Reference PubMed: Verkerk 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Annemieke Verkerk
Database submission license No license selected
Created by Annemieke Verkerk
Date created 2017-09-08 10:38:19 +02:00 (CEST)
Date last edited 2020-06-02 21:45:39 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

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


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