Variant #0000518168 (NC_000003.11:g.14207087T>C, XPC(NM_004628.4):c.622-2A>G)

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.14207087T>C
DNA change (hg38) g.14165587T>C
Published as XPC(NM_004628.4):c.622-2A>G
ISCN -
DB-ID XPC_000030 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) 0 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
XPC NM_004628.4 +/. - c.622-2A>G r.spl? p.?