Variant #0000320065 (NC_000003.11:g.14209872_14209875del, XPC(NM_004628.4):c.420_423del)

Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.14209872_14209875del
DNA change (hg38) g.14168372_14168375del
Published as XPC(NM_004628.4):c.420_423del (p.(Glu141LeufsTer6)), XPC(NM_004628.4):c.420_423delTGAG (p.E141Lfs*6)
ISCN -
DB-ID XPC_000012 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 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     
XPC NM_004628.4 +/. - c.420_423del r.(?) p.(Glu141LeufsTer6)