Genomic variant #0000401053

Individual ID 00173674
Chromosome X
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification -
DNA change (genomic) (Relative to hg19 / GRCh37) g.88009188C>T
DNA change (hg38) -
Published as T258I
ISCN -
DB-ID CPXCR1_000011
Variant remarks found once, nonrecurrent change
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Lucy Raymond
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CPXCR1 NM_033048.5 ?/. 3 c.773C>T r.(?) p.(Thr258Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174557 DNA SEQ - - SLC6A14 1 Lucy Raymond