Variant #0000518159 (NC_000003.11:g.14199743_14199744del, XPC(NM_004628.4):c.1643_1644del)

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.14199743_14199744del
DNA change (hg38) g.14158243_14158244del
Published as XPC(NM_004628.4):c.1643_1644delTG (p.V548Afs*25)
ISCN -
DB-ID XPC_000021 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 -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
XPC NM_004628.4 +/. - c.1643_1644del r.(?) p.(Val548AlafsTer25)