Genomic variant #0000393077

Individual ID 00172337
Chromosome X
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.125298690G>A
DNA change (hg38) -
Published as C406C
ISCN -
DB-ID DCAF12L2_000005
Variant remarks recurrent, found 50 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 50/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.46966 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.1218C>T - r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000173220 DNA SEQ - - DCAF12L2 1 Lucy Raymond