Variant #0000651091 (NC_000003.11:g.14214524G>A, XPC(NM_004628.4):c.142C>T)

Individual ID 00293234
Chromosome 3
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.14214524G>A
DNA change (hg38) g.14173024G>A
Published as -
ISCN -
DB-ID XPC_000015 See all 3 reported entries
Variant remarks 78 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs2229089
Origin Germline
Segregation -
Frequency 78/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.02165 View details
Owner Mohammed Faruq
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
XPC NM_004628.4 -?/. - c.142C>T r.(?) p.(Leu48Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000294402 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq