Genomic variant #0000573379

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.125299099A>C
DNA change (hg38) -
Published as DCAF12L2(NM_001013628.2):c.809T>G (p.F270C)
ISCN -
DB-ID DCAF12L2_000009
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DCAF12L2 NM_001013628.2 -?/. - c.809T>G likely benign r.(?) p.(Phe270Cys)