Genomic variant #0000573219

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.118694313_118694314insTA
DNA change (hg38) g.119560350_119560351insTA
Published as CXorf56(NM_022101.3):c.159_160insTA (p.D54*)
ISCN -
DB-ID CXorf56_000024 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CXorf56 NM_022101.3 ?/. - c.159_160insTA r.(?) p.(Asp54Ter)