Genomic variant #0000577765

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.88008881C>A
DNA change (hg38) g.88753880C>A
Published as CPXCR1(NM_033048.5):c.466C>A (p.L156I)
ISCN -
DB-ID CPXCR1_000013
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     
CPXCR1 NM_033048.5 ?/. - c.466C>A r.(?) p.(Leu156Ile)