Genomic variant #0000401036

Individual ID 00173618
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.88008807G>A
DNA change (hg38) g.88753806G>A
Published as R131H
ISCN -
DB-ID CPXCR1_000001 See all 3 reported entries
Variant remarks recurrent, found 82 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 82/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.32926 View details
Owner Lucy Raymond
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CPXCR1 NM_033048.5 ?/. 3 c.392G>A r.(?) p.(Arg131His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174501 DNA SEQ - - LONRF3 1 Lucy Raymond