Genomic variant #0000394017

Individual ID 00172895
Chromosome X
Allele Parent #1
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.118678364G>A
DNA change (hg38) g.119544401G>A
Published as G125G
ISCN -
DB-ID CXorf56_000005 See all 3 reported entries
Variant remarks recurrent, found 89 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 89/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.57342 View details
Owner Lucy Raymond
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CXorf56 NM_022101.3 ?/. - c.375C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000173778 DNA SEQ - - PRRG3 1 Lucy Raymond