Genomic variant #0000400987

Individual ID 00173507
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.88009170G>C
DNA change (hg38) g.88754169G>C
Published as G252A
ISCN -
DB-ID CPXCR1_000010
Variant remarks recurrent, found 5 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 5/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.0091 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.755G>C r.(?) p.(Gly252Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174390 DNA SEQ - - HTATSF1 1 Lucy Raymond