Genomic variant #0000393078

Individual ID 00172338
Chromosome X
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.125299467G>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID DCAF12L2_000007
Variant remarks recurrent, found 46 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 46/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.46956 View details
Owner Lucy Raymond




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DCAF12L2 NM_001013628.2 ?/. - c.441C>A - r.(?) p.(His147Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000173221 DNA SEQ - - DCAF12L2 1 Lucy Raymond